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List of conditions with craniosynostosis: Difference between revisions

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|<ref>{{Cite web |title=Craniofrontonasal syndrome (Concept Id: C0220767) |url=https://www.ncbi.nlm.nih.gov/medgen/65095 |access-date=2023-07-05 |website=www.ncbi.nlm.nih.gov |language=en}}</ref>
|<ref>{{Cite web |title=Craniofrontonasal syndrome (Concept Id: C0220767) |url=https://www.ncbi.nlm.nih.gov/medgen/65095 |access-date=2023-07-05 |website=www.ncbi.nlm.nih.gov |language=en}}</ref>
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|Oxycephaly/turricephaly
|Oxycephaly/turricephaly

Revision as of 16:08, 16 September 2023

Craniosynostosis, a condition in which the sutures of the head (joints between the bones of the skull) prematurely fuse and subsequently alter the shape of the head, is seen in multiple conditions, as listed below.

0-9

Condition Image Impacted sutures Cranial shape Notes Sources
3MC syndrome Spectrum of 4 syndromes: Carnevale, Mingarelli, Malpuech, and Michels. [1][2]
8q22.1 microdeletion syndrome Microcephaly [3]
15q overgrowth syndrome Macrocephaly; not seen in all cases. [4]

A

Condition Image Impacted sutures Cranial shape Notes Sources
Acrocephalopolydactyly Oxycephaly [5]
Acrocephalosyndactyly type I Coronal, sagittal Acrobrachycephaly, brachycephaly, brachyturricephaly Characterized by syndactyly of fingers and toes; usually known as Apert syndrome. [6]
Acrocephalosyndactyly type IV Oxycephaly Usually known as Goodman syndrome; now classified as Carpenter syndrome variant. [7][8]
Acrocephalopolysyndactyly type III Usually known as Sakati-Nyhan-Tisdale syndrome. [9]
Acrocraniofacial dysostosis Oxycephaly [10]
Adducted thumb Microcephaly [11]
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Microcephaly [12]
Aneurysm-osteoarthritis syndrome Usually classified as LDS type 1C. [13]
Antley-Bixler syndrome Coronal Brachycephaly, cloverleaf skull Macrocephaly or microcephaly [14][15]
Aprosencephaly cerebellar dysgenesis [16]
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) Plagiocephaly, trigonocephaly [17]
Aurocephalosyndactyly [18]
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Plagiocephaly Microcephaly [19]
Autosomal recessive osteopetrosis (TCIRG1) Macrocephaly [20]

B

Condition Image Impacted sutures Cranial shape Notes Sources
Baller-Gerold syndrome Sagittal, coronal Brachyturricephaly [21]
Beare-Stevenson cutis gyrata syndrome Cloverleaf skull [22]
Bent bone dysplasia syndrome Coronal [23]
Bonnemann-Meinecke-Reich syndrome Described in 2 sets of siblings in 2 different families; last reported 1991. [24]
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia Microcephaly [25]

C

Condition Image Impacted sutures Cranial shape Notes Sources
Cardiocranial syndrome, Pfeiffer type Sagittal [26]
Carpenter syndrome Coronal, sagittal Brachycephaly, oxycephaly, trigonocephaly Also classified as Acrocephalopolysyndactyly type II. [27][28][29]
CEBALID syndrome Brachycephaly, dolichocephaly, plagiocephaly, platystencephaly, turricephaly [30]
Cerebrooculonasal syndrome Brachycephaly Macrocephaly [31]
Char syndrome [32]
Childhood hypophosphatasia Dolichocephaly [33]
Chromosome 5p13 duplication syndrome Brachycephaly, turricephaly Macrocephaly [34]
Cloverleaf skull syndrome Cloverleaf skull Usually considered to be an isolated form. [35]
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull Last case reported in 1987. [36]
Cloverleaf skull-multiple congenital anomalies syndrome Cloverleaf skull Seen in 3 siblings from 1 family. [37]
Contractures, pterygia, and spondylocarpotarsal fusion syndrome Microcephaly [38]
Cole-Carpenter syndrome Coronal Turricephaly Macrocephaly [39][40][41]
Cranioectodermal dysplasia Metopic, sagittal Cloverleaf skull, dolichocephaly/scaphocephaly, plagiocephaly Macrocephaly [42][43][44][45][46]
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development Brachycephaly Macrocephaly or microcephaly [47]
Craniofacial dyssynostosis Lambdoid (bilateral), sagittal (posterior) Brachycephaly, brachyturricephaly [48]
Craniofacial dysplasia - osteopenia syndrome Brachycephaly [49]
Craniofrontonasal dysplasia-Poland anomaly syndrome Less than 10 known cases described. [50]
Craniofrontonasal syndrome Coronal Brachycephaly [51]
Craniorhiny Oxycephaly/turricephaly [52]
Craniosynostosis, Boston type (MSX2) Coronal Brachycephaly, brachyturricephaly, trigonocephaly, turricephaly Usually considered nonsyndromic. [53]
Craniosynostosis (ALX4) Susceptible cause; usually considered nonsyndromic. [54]
Craniosynstosis (ZIC1) Brachycephaly, plagiocephaly, turricephaly Can also feature delayed suture closure, microcephaly; usually considered nonsyndromic. [55]
Craniosynostosis (SMAD6) Usually considered nonsyndromic. [56]
Craniosynostosis (TWIST1) Coronal (right unicoronal), sagittal Dolichocephaly/scaphocephaly, oxycephaly/turricephaly Usually considered nonsyndromic. [57]
Craniosynostosis (TCF12) Coronal, sagittal Usually considered nonsyndromic. [58]
Craniosynostosis (ERF) Coronal, metopic,

pansynostosis, sagittal

Macrocephaly; usually considered nonsyndromic. [59]
Craniosynostosis and dental anomalies Coronal, metopic, sagittal Brachycephaly, dolichocephaly/scaphocephaly, oxycephaly/turricephaly, trigonocephaly [60]
Craniosynostosis with anomalies of the cranial base and digits [61]
Craniosynostosis with ocular abnormalities and hallucal defects [62]
Craniosynostosis, Adelaide type [63]
Craniosynostosis, Philadelphia type Sagittal Dolichocephaly Variable sagittal craniosynostosis penetrance. [64]
Craniosynostosis-anal anomalies-porokeratosis syndrome Coronal, sagittal Brachycephaly [65]
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Sagittal Dolichocephaly [66]
Craniosynostosis-fibular aplasia syndrome [67]
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Sagittal Scaphocephaly [68]
Craniosynostosis-intellectual disability syndrome of 51N and Gettig [69]
Craniosynostosis-intellectual disability-clefting syndrome Microcephaly [70]
Craniosynostosis-intracranial calcifications syndrome Microcephaly [71]
Craniotelencephalic dysplasia [72]
Crouzon syndrome Coronal, sagittal Brachycephaly Also classified as Acrocephalosyndactyly type II. [73][74]
Crouzon syndrome-acanthosis nigricans syndrome Brachycephaly [75]
Curry-Jones syndrome Coronal (unilateral, sometimes bilateral) [76]
Cutis laxa, autosomal recessive, type 2E [77]

D

Condition Image Impacted sutures Cranial shape Notes Sources
DEGCAGS syndrome Plagiocephaly Microcephaly [78]
Developmental delay with short stature, dysmorphic facial features, and sparse hair Scaphocephaly, trigonocephaly [79]
Distal 10q deletion syndrome Dolichocephaly Microcephaly [80]
Distal monosomy 7p [81]
Distal trisomy 1p36 Metopic Microcephaly [82]
Distal trisomy 5q Microcephaly [83]
Distal symphalangism [84]

E

Condition Image Impacted sutures Cranial shape Notes Sources
Ehlers-Danlos syndrome, spondylodysplastic type Macrocephaly [85]

F

Condition Image Impacted sutures Cranial shape Notes Sources
Familial scaphocephaly syndrome, McGillivray type Dolichocephaly [86]
Fontaine progeroid syndrome Coronal Brachycephaly, turricephaly Microcephaly [87]
Frontometaphyseal dysplasia Part of oto-palato-digital syndrome spectrum [88]
Frontonasal dysplasia with alopecia and genital anomaly Brachycephaly, plagiocephaly (anterior) Microcephaly [89]

G

Condition Image Impacted sutures Cranial shape Notes Sources
Glass-Chapman-Hockley syndrome Coronal Only seen in a single family. [90]
Gomez Lopez Hernandez syndrome Brachycephaly, turricephaly [91]
Greig cephalopolysyndactyly syndrome Metopic Dolichocephaly/scaphocephaly, trigonocephaly Delayed suture closure, macrocephaly [92]

H

Condition Image Impacted sutures Cranial shape Notes Sources
Hartsfield-Bixler-Demyer syndrome Microcephaly [93]
Holoprosencephaly-craniosynostosis syndrome Coronal [94]
Hunter-McAlpine craniosynostosis [95]
Hyper-IgE recurrent infection syndrome Scaphocephaly [96][97]
Hypogonadotropic hypogonadism (TCF12) Coronal (bilateral) Plagiocephaly (anterior) [98]
Hypomandibular faciocranial dysostosis Coronal [99]
Hypophosphatemic rickets, autosomal recessive (DMP1) [100]

I

Condition Image Impacted sutures Cranial shape Notes Sources
IMAGe syndrome Macrocephaly [101]
Infantile hypophosphatasia [102]
Intellectual developmental disorder with autistic features and language delay, with or without seizures Microcephaly [103]
Intellectual disability, autosomal dominant (TLK2) Microcephaly [104]
Intellectual disability, X-linked syndromic, Turner type (HUWE1) Brachycephaly, trigonocephaly Macrocephaly or microcephaly [105]
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome Brachycephaly [106]

J

Condition Image Impacted sutures Cranial shape Notes Sources
Jackson-Weiss syndrome [107]

L

Condition Image Impacted sutures Cranial shape Notes Sources
Larsen-like syndrome, B3GAT3 type Brachycephaly [108]
Lethal occipital encephalocele-skeletal dysplasia syndrome Brachycephaly [109]
Loeys-Dietz syndrome Dolichocephaly [110][111][112][113][114]
Lowry-MacLean syndrome Microcephaly [115]

M

Condition Image Impacted sutures Cranial shape Notes Sources
Mandibular prognathia [116]
Marshall-Smith syndrome Dolichocephaly [117]
Meier-Gorlin syndrome Sagittal Microcephaly (progressive) [118]
Metaphyseal acroscyphodysplasia [119]
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome Macrocephaly [120]
Microcephaly-micromelia syndrome Microcephaly [121]
Monosomy 9q22.3 (microdeletion) Metopic Same characteristic features as Gorlin syndrome, including macrocephaly [122]
Mosaic variegated aneuploidy syndrome Dolichocephaly Microcephaly [123]
Mucolipidosis type II Trigonocephaly [124]
Muenke syndrome Coronal Brachycephaly, plagiocephaly Macrocephaly [125]
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked Metopic Macrocephaly or microcephaly [126]

N

Condition Image Impacted sutures Cranial shape Notes Sources
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) Microcephaly [127]
Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) Macrocephaly [128]
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation Dolichocephaly [129]
Noonan syndrome-like disorder with loose anagen hair (PPP1CB) Macrocephaly (relative) [130]

O

Condition Image Impacted sutures Cranial shape Notes Sources
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Described in 2 brothers, one of whom died within a month of birth. [131]
Osteoglophonic dysplasia Cloverleaf skull Mild cloverleaf skull presentation closer to a more tower-shaped skull. [132]
Osteosclerosis, Stanescu type Brachycephaly Microcephaly [133]
Osteosclerosis-developmental delay-craniosynostosis syndrome Brachycephaly Macrocephaly; described in 13 patients from a four-generation family. [134]

P

Condition Image Impacted sutures Cranial shape Notes Sources
Parenti-Mignot neurodevelopmental syndrome [135]
Peters plus syndrome Macrocephaly or microcephaly [136]
Pfeiffer syndrome Coronal Brachyturricephaly, cloverleaf skull Also classified as Acrocephalosyndactyly type V. [137]
Potocki-Shaffer syndrome Brachycephaly, turricephaly [138]
Progeroid and marfanoid aspect-lipodystrophy syndrome Scaphocephaly Macrocephaly [139]
Pseudo-Hurler polydystrophy [140]

R

Condition Image Impacted sutures Cranial shape Notes Sources
Rahman syndrome Macrocephaly [141]
Rienhoff syndrome Brachycephaly, dolichocephaly Usually classified as LDS type 5. [142]
Roberts-SC phocomelia syndrome Brachycephaly Microcephaly [143]
Robinow-Sorauf syndrome Pansynostosis Plagiocephaly Now classified as a variant of SCS. [144]

S

Condition Image Impacted sutures Cranial shape Notes Sources
Saethre-Chotzen syndrome Coronal Brachycephaly, oxycephaly, plagiocephaly Delayed suture closure; also classified as Acrocephalosyndactyly type III. [145]
Saldino-Mainzer syndrome Scaphocephaly, trigonocephaly Microcephaly [146]
Shprintzen-Goldberg syndrome Dolichocephaly, brachyturricephaly Microcephaly [147]
SLC39A8-CDG [148]
Spondyloepiphyseal dysplasia, Nishimura type [149]
Structural brain anomalies with impaired intellectual development and craniosynostosis Coronal Brachycephaly Microcephaly [150]
Summitt syndrome Oxycephaly Last reported 1979; now classified as Carpenter syndrome variant. [151][152][153]
Syndactyly type 1 (2q35 duplication) Sagittal [154]
Syndactyly-telecanthus-anogenital and renal malformations syndrome [155]

T

Condition Image Impacted sutures Cranial shape Notes Sources
Thanatophoric dysplasia Cloverleaf skull Macrocephaly [156][157][158]
Tolchin-Le Caignec syndrome Scaphocephaly, oxycephaly Large head circumference [159]
Trigonocephaly (FGFR1) Metopic Trigonocephaly Microcephaly; usually considered nonsyndromic. [160]
Trigonocephaly (FREM1) Metopic Trigonocephaly Microcephaly; usually considered nonsyndromic. [161]
Trigonocephaly-broad thumbs syndrome Trigonocephaly Described in a mother and son. [162]

V

Condition Image Impacted sutures Cranial shape Notes Sources
Van den Ende-Gupta syndrome Scaphocephaly [163]

Z

Condition Image Impacted sutures Cranial shape Notes Sources
ZTTK syndrome Macrocephaly (can be relative) [164]

Sources

References

  1. ^ "3MC syndrome 2 (Concept Id: C0796279)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  2. ^ "3MC syndrome 3 (Concept Id: C0796032)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  3. ^ "8q22.1 microdeletion syndrome (Concept Id: C1842464)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  4. ^ "15q overgrowth syndrome (Concept Id: C4749920)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  5. ^ "Acrocephalopolydactyly (Concept Id: C3495588) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  6. ^ "Acrocephalosyndactyly type I (Concept Id: C0001193)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  7. ^ "Acrocephalosyndactyly type V (Concept Id: C0265303)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  8. ^ "ACROCEPHALOPOLYSYNDACTYLY TYPE IV". omim.org. Retrieved 2023-07-06.
  9. ^ "Acrocephalopolysyndactyly type III (Concept Id: C1275079)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  10. ^ "Acrocraniofacial dysostosis (Concept Id: C1860145)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  11. ^ "Adducted thumb (Concept Id: C0431886)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  12. ^ "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (Concept Id: C1864848)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  13. ^ "Aneurysm-osteoarthritis syndrome (Concept Id: C3151087)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  14. ^ "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (Concept Id: C2936791)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  15. ^ "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (Concept Id: C3150099)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  16. ^ "Aprosencephaly cerebellar dysgenesis (Concept Id: C1832412)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  17. ^ "Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (Concept Id: C4748872)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  18. ^ "Aurocephalosyndactyly (Concept Id: C1862380) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  19. ^ "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (Concept Id: C4225396)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  20. ^ "Autosomal recessive osteopetrosis 1 (Concept Id: C1850127)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  21. ^ "Baller-Gerold syndrome (Concept Id: C0265308)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  22. ^ "Beare-Stevenson cutis gyrata syndrome (Concept Id: C1852406)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  23. ^ "Bent bone dysplasia syndrome 1 (Concept Id: C3281247)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  24. ^ "Bonnemann-Meinecke-Reich syndrome (Concept Id: C1856973)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  25. ^ "Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (Concept Id: C1864965)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  26. ^ "Cardiocranial syndrome, Pfeiffer type (Concept Id: C1857495)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  27. ^ "Carpenter syndrome (Concept Id: C1275078)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  28. ^ "MEGF8-related Carpenter syndrome (Concept Id: C3554247)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  29. ^ "RAB23-related Carpenter syndrome (Concept Id: C4551510)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  30. ^ "CEBALID syndrome (Concept Id: C5394044)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  31. ^ "Cerebrooculonasal syndrome (Concept Id: C1854108)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  32. ^ "Char syndrome (Concept Id: C1868570)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  33. ^ "Childhood hypophosphatasia (Concept Id: C0220743) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  34. ^ "Chromosome 5p13 duplication syndrome (Concept Id: C2750805)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  35. ^ "Cloverleaf skull syndrome (Concept Id: C0432126)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  36. ^ "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome (Concept Id: C5190852)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  37. ^ "Cloverleaf skull-multiple congenital anomalies syndrome (Concept Id: C1846671)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-26.
  38. ^ "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (Concept Id: C1867440)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  39. ^ "Cole-Carpenter syndrome (Concept Id: C1862178)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  40. ^ "Cole-Carpenter syndrome 1 (Concept Id: C4317154)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  41. ^ "Cole-Carpenter syndrome 2 (Concept Id: C4225382) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  42. ^ "Cranioectodermal dysplasia (Concept Id: C4551571)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  43. ^ "Cranioectodermal dysplasia 1 (Concept Id: C0432235)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  44. ^ "Cranioectodermal dysplasia 2 (Concept Id: C3150874) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  45. ^ "Cranioectodermal dysplasia 3 (Concept Id: C3279807)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  46. ^ "Cranioectodermal dysplasia 4 (Concept Id: C3280616)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  47. ^ "Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 (Concept Id: C5677021)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  48. ^ "Craniofacial dyssynostosis (Concept Id: C1857511)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  49. ^ "Craniofacial dysplasia - osteopenia syndrome (Concept Id: C1970027)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  50. ^ "Craniofrontonasal dysplasia-Poland anomaly syndrome (Concept Id: CN199598) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  51. ^ "Craniofrontonasal syndrome (Concept Id: C0220767)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  52. ^ "Craniorhiny (Concept Id: C1852501)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  53. ^ "Craniosynostosis 2 (Concept Id: C1858160)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  54. ^ "Craniosynostosis 5, susceptibility to (Concept Id: C3809819)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  55. ^ "Craniosynostosis 6 (Concept Id: C4225269)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  56. ^ "Craniosynostosis 7 (Concept Id: C4479496)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  57. ^ "TWIST1-related craniosynostosis (Concept Id: C4551902) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  58. ^ "TCF12-related craniosynostosis (Concept Id: C3715051)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  59. ^ "Craniosynostosis 4 (Concept Id: C1833340)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  60. ^ "Craniosynostosis and dental anomalies (Concept Id: C3280073)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  61. ^ "Craniosynostosis with anomalies of the cranial base and digits (Concept Id: C1857493) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  62. ^ "Craniosynostosis with ocular abnormalities and hallucal defects (Concept Id: C1842316)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  63. ^ "Craniosynostosis, Adelaide type (Concept Id: C1833578)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  64. ^ "Craniosynostosis, Philadelphia type (Concept Id: C1832590)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  65. ^ "Craniosynostosis-anal anomalies-porokeratosis syndrome (Concept Id: C1864186)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  66. ^ "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (Concept Id: C1838347)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  67. ^ "Craniosynostosis-fibular aplasia syndrome (Concept Id: C1857492)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  68. ^ "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome (Concept Id: C3267187)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  69. ^ "Craniosynostosis-intellectual disability syndrome of 51N and Gettig (Concept Id: C1857473) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  70. ^ "Craniosynostosis-intellectual disability-clefting syndrome (Concept Id: C1857472)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  71. ^ "Craniosynostosis-intracranial calcifications syndrome (Concept Id: C1842058)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  72. ^ "Craniotelencephalic dysplasia (Concept Id: C1857471)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  73. ^ "Crouzon syndrome (Concept Id: C0010273)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  74. ^ Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Acrocephalosyndactyly Type II: Crouzon Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education, retrieved 2023-07-06
  75. ^ "Crouzon syndrome-acanthosis nigricans syndrome (Concept Id: C2677099)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  76. ^ "Curry-Jones syndrome (Concept Id: C0795915)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  77. ^ "Cutis laxa, autosomal recessive, type 2E (Concept Id: C5561944) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  78. ^ "DEGCAGS syndrome (Concept Id: C5561967)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  79. ^ "Developmental delay with short stature, dysmorphic facial features, and sparse hair (Concept Id: C4310801)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  80. ^ "Distal 10q deletion syndrome (Concept Id: C2674937) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  81. ^ "Distal monosomy 7p (Concept Id: C5190515)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  82. ^ "Distal trisomy 1p36 (Concept Id: C4707665)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  83. ^ "Distal trisomy 5q (Concept Id: C4706363)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  84. ^ "Distal symphalangism (Concept Id: C1861401)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  85. ^ "Ehlers-Danlos syndrome, spondylodysplastic type, 1 (Concept Id: C4552003)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  86. ^ "Familial scaphocephaly syndrome, McGillivray type (Concept Id: C1865070)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  87. ^ "Fontaine progeroid syndrome (Concept Id: C2676780)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  88. ^ "Frontometaphyseal dysplasia 1 (Concept Id: C4281559)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  89. ^ "Frontonasal dysplasia with alopecia and genital anomaly (Concept Id: C3150703) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  90. ^ "Glass-chapman-hockley syndrome (Concept Id: CN268574)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  91. ^ "Gomez Lopez Hernandez syndrome (Concept Id: C0795959)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  92. ^ "Greig cephalopolysyndactyly syndrome (Concept Id: C0265306)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  93. ^ "Hartsfield-Bixler-Demyer syndrome (Concept Id: C1845146)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  94. ^ "Holoprosencephaly-craniosynostosis syndrome (Concept Id: C1832424)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  95. ^ "Hunter-McAlpine craniosynostosis (Concept Id: C1832408) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  96. ^ "Hyper-IgE recurrent infection syndrome 1, autosomal dominant (Concept Id: C4721531)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  97. ^ "Hyper-IgE recurrent infection syndrome 4, autosomal recessive (Concept Id: C5193141)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  98. ^ "Hypogonadotropic hypogonadism 26 with or without anosmia (Concept Id: C5676903)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  99. ^ "Hypomandibular faciocranial dysostosis (Concept Id: C1855848)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  100. ^ "Hypophosphatemic rickets, autosomal recessive, 1 (Concept Id: C4551495)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  101. ^ "IMAGe syndrome (Concept Id: C1846009)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  102. ^ "Infantile hypophosphatasia (Concept Id: C0268412)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  103. ^ "Intellectual developmental disorder with autistic features and language delay, with or without seizures (Concept Id: C5394447)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  104. ^ "Intellectual disability, autosomal dominant 57 (Concept Id: C4748003)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  105. ^ "Intellectual disability, X-linked syndromic, Turner type (Concept Id: C2678046)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  106. ^ "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome (Concept Id: C4751073)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  107. ^ "Jackson-Weiss syndrome (Concept Id: C0795998)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  108. ^ "Larsen-like syndrome, B3GAT3 type (Concept Id: C3278404)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  109. ^ "Lethal occipital encephalocele-skeletal dysplasia syndrome (Concept Id: C3280729)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  110. ^ "Loeys-Dietz syndrome (Concept Id: C2697932)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  111. ^ "Loeys-Dietz syndrome 1 (Concept Id: C4551955)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  112. ^ "Loeys-Dietz syndrome 2 (Concept Id: C2674574)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  113. ^ "Loeys-Dietz syndrome 4 (Concept Id: C3553762)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  114. ^ "Loeys-Dietz syndrome 6 (Concept Id: C5562041)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  115. ^ "Lowry-MacLean syndrome (Concept Id: C0796020) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
  116. ^ "Mandibular prognathia (Concept Id: C0399526)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  117. ^ "Marshall-Smith syndrome (Concept Id: C0265211)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  118. ^ "Meier-Gorlin syndrome 7 (Concept Id: C4310738)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  119. ^ "Metaphyseal acroscyphodysplasia (Concept Id: C1855243)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  120. ^ "Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome (Concept Id: C1855188)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  121. ^ "Microcephaly-micromelia syndrome (Concept Id: C1855079)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  122. ^ "Monosomy 9q22.3 (Concept Id: C3711390)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  123. ^ "Mosaic variegated aneuploidy syndrome 2 (Concept Id: C3279843)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  124. ^ "Mucolipidosis type II (Concept Id: C2673377)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  125. ^ "Muenke syndrome (Concept Id: C1864436)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  126. ^ "Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (Concept Id: C5542341)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  127. ^ "Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (Concept Id: C5436747)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  128. ^ "Neurodevelopmental disorder with speech impairment and dysmorphic facies (Concept Id: C5436699)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  129. ^ "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation (Concept Id: C4225274) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  130. ^ "Noonan syndrome-like disorder with loose anagen hair 2 (Concept Id: C4479577)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  131. ^ "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome (Concept Id: C4302879)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  132. ^ "Osteoglophonic dysplasia (Concept Id: C0432283)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  133. ^ "Osteosclerosis - Stanescu type (Concept Id: C0432263) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  134. ^ "Osteosclerosis-developmental delay-craniosynostosis syndrome (Concept Id: C4302818)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  135. ^ "Parenti-mignot neurodevelopmental syndrome (Concept Id: C5676984)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  136. ^ "Peters plus syndrome (Concept Id: C0796012)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  137. ^ "Pfeiffer syndrome (Concept Id: C0220658)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  138. ^ "Potocki-Shaffer syndrome (Concept Id: C1832588)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  139. ^ "Progeroid and marfanoid aspect-lipodystrophy syndrome (Concept Id: C4310796)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  140. ^ "Pseudo-Hurler polydystrophy (Concept Id: C0033788)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  141. ^ "Rahman syndrome (Concept Id: C4479637)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  142. ^ "Rienhoff syndrome (Concept Id: C3810012)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  143. ^ "Roberts-SC phocomelia syndrome (Concept Id: C0392475)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  144. ^ "Robinow-Sorauf syndrome (Concept Id: C1867146)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  145. ^ "Saethre-Chotzen syndrome (Concept Id: C0175699)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  146. ^ "Saldino-Mainzer syndrome (Concept Id: C1849437)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  147. ^ "Shprintzen-Goldberg syndrome (Concept Id: C1321551)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  148. ^ "SLC39A8-CDG (Concept Id: C4225234)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  149. ^ "Spondyloepiphyseal dysplasia, nishimura type (Concept Id: C4305147)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  150. ^ "Structural brain anomalies with impaired intellectual development and craniosynostosis (Concept Id: C5231485)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  151. ^ "Summitt syndrome (Concept Id: C1802405)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  152. ^ Cohen, D. M.; Green, J. G.; Miller, J.; Gorlin, R. J.; Reed, J. A. (October 1987). "Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes". American Journal of Medical Genetics. 28 (2): 311–324. doi:10.1002/ajmg.1320280208. ISSN 0148-7299. PMID 3322002.
  153. ^ "SUMMITT SYNDROME". omim.org. Retrieved 2023-07-06.
  154. ^ "Syndactyly type 1 (Concept Id: C1861380)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  155. ^ "Syndactyly-telecanthus-anogenital and renal malformations syndrome (Concept Id: C2678045)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  156. ^ "Thanatophoric dysplasia (Concept Id: C0039743)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  157. ^ "Thanatophoric dysplasia type 1 (Concept Id: C1868678)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  158. ^ "Thanatophoric dysplasia, type 2 (Concept Id: C1300257)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  159. ^ "Tolchin-Le Caignec syndrome (Concept Id: C5436509) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  160. ^ "Trigonocephaly 1 (Concept Id: C0432122)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
  161. ^ "Trigonocephaly 2 (Concept Id: C3280974)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  162. ^ "Trigonocephaly-broad thumbs syndrome (Concept Id: CN204378)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
  163. ^ "Van den Ende-Gupta syndrome (Concept Id: C1833136)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
  164. ^ "ZTTK syndrome (Concept Id: C4310696)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
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