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.

Condition	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]

Condition	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]

Condition	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]

Condition	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]

Condition	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]

List of conditions with craniosynostosis

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Condition	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]

Condition	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]

Condition	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]

Condition	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]

Condition	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]

Condition	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]

Condition	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]

Condition	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]

Condition	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]

Condition	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]

Condition	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]

Condition	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]