List of conditions with craniosynostosis

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. The level of involvement varies by condition and can range from minor, single-suture craniosynostosis to major, multisutural craniosynostosis.

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]

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67. "Craniosynostosis-fibular aplasia syndrome (Concept Id: C1857492)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
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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.