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 +ConditionImageImpacted suturesCranial shapeNotesSources3MC syndromeSpectrum of 4 syndromes: Carnevale, Mingarelli, Malpuech, and Michels.8q22.1 microdeletion syndromeMicrocephaly15q overgrowth syndromeMacrocephaly; not seen in all cases.

A +ConditionImageImpacted suturesCranial shapeNotesSourcesAcrocephalopolydactylyOxycephalyAcrocephalosyndactyly type ICoronal, sagittalAcrobrachycephaly, brachycephaly, brachyturricephalyCharacterized by syndactyly of fingers and toes; usually known as Apert syndrome.Acrocephalosyndactyly type IVOxycephalyUsually known as Goodman syndrome; now classified as Carpenter syndrome variant.Acrocephalopolysyndactyly type IIIUsually known as Sakati-Nyhan-Tisdale syndrome.Acrocraniofacial dysostosisOxycephalyAdducted thumbMicrocephalyAgammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndromeMicrocephalyAneurysm-osteoarthritis syndromeUsually classified as LDS type 1C.Antley-Bixler syndromeCoronalBrachycephaly, cloverleaf skullMacrocephaly or microcephalyAprosencephaly cerebellar dysgenesisArthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID)Plagiocephaly, trigonocephalyAurocephalosyndactylyAutosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromePlagiocephalyMicrocephalyAutosomal recessive osteopetrosis (TCIRG1)Macrocephaly

B +ConditionImageImpacted suturesCranial shapeNotesSourcesBaller-Gerold syndromeSagittal, coronalBrachyturricephalyBeare-Stevenson cutis gyrata syndromeCloverleaf skullBent bone dysplasia syndromeCoronalBonnemann-Meinecke-Reich syndromeDescribed in 2 sets of siblings in 2 different families; last reported 1991.Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaMicrocephaly

C +ConditionImageImpacted suturesCranial shapeNotesSourcesCardiocranial syndrome, Pfeiffer typeSagittalCarpenter syndromeCoronal, sagittalBrachycephaly, oxycephaly, trigonocephalyAlso classified as Acrocephalopolysyndactyly type II.CEBALID syndromeBrachycephaly, dolichocephaly, plagiocephaly, platystencephaly, turricephalyCerebrooculonasal syndromeBrachycephalyMacrocephalyChar syndromeChildhood hypophosphatasiaDolichocephalyChromosome 5p13 duplication syndromeBrachycephaly, turricephalyMacrocephalyCloverleaf skull syndromeCloverleaf skullUsually considered to be an isolated form.Cloverleaf skull-asphyxiating thoracic dysplasia syndromeCloverleaf skullLast case reported in 1987.Cloverleaf skull-multiple congenital anomalies syndromeCloverleaf skullSeen in 3 siblings from 1 family.Contractures, pterygia, and spondylocarpotarsal fusion syndromeMicrocephalyCole-Carpenter syndromeCoronalTurricephalyMacrocephalyCranioectodermal dysplasiaMetopic, sagittalCloverleaf skull, dolichocephaly/scaphocephaly, plagiocephalyMacrocephalyCraniofacial dysmorphism, skeletal anomalies, and impaired intellectual developmentBrachycephalyMacrocephaly or microcephalyCraniofacial dyssynostosisLambdoid (bilateral), sagittal (posterior)Brachycephaly, brachyturricephalyCraniofacial dysplasia - osteopenia syndromeBrachycephalyCraniofrontonasal dysplasia-Poland anomaly syndromeLess than 10 known cases described.Craniofrontonasal syndromeCoronalBrachycephalyCraniorhinyOxycephaly/turricephalyCraniosynostosis, Boston type (MSX2)CoronalBrachycephaly, brachyturricephaly, trigonocephaly, turricephalyUsually considered nonsyndromic.Craniosynostosis (ALX4)Susceptible cause; usually considered nonsyndromic.Craniosynstosis (ZIC1)Brachycephaly, plagiocephaly, turricephalyCan also feature delayed suture closure, microcephaly; usually considered nonsyndromic.Craniosynostosis (SMAD6)Usually considered nonsyndromic.Craniosynostosis (TWIST1)Coronal (right unicoronal), sagittalDolichocephaly/scaphocephaly, oxycephaly/turricephalyUsually considered nonsyndromic.Craniosynostosis (TCF12)Coronal, sagittalUsually considered nonsyndromic.Craniosynostosis (ERF)Coronal, metopic, pansynostosis, sagittalMacrocephaly; usually considered nonsyndromic.Craniosynostosis and dental anomaliesCoronal, metopic, sagittalBrachycephaly, dolichocephaly/scaphocephaly, oxycephaly/turricephaly, trigonocephalyCraniosynostosis with anomalies of the cranial base and digitsCraniosynostosis with ocular abnormalities and hallucal defectsCraniosynostosis, Adelaide typeCraniosynostosis, Philadelphia typeSagittalDolichocephalyVariable sagittal craniosynostosis penetrance.Craniosynostosis-anal anomalies-porokeratosis syndromeCoronal, sagittalBrachycephalyCraniosynostosis-Dandy-Walker malformation-hydrocephalus syndromeSagittalDolichocephalyCraniosynostosis-fibular aplasia syndromeCraniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndromeSagittalScaphocephalyCraniosynostosis-intellectual disability syndrome of 51N and GettigCraniosynostosis-intellectual disability-clefting syndromeMicrocephalyCraniosynostosis-intracranial calcifications syndromeMicrocephalyCraniotelencephalic dysplasiaCrouzon syndromeCoronal, sagittalBrachycephalyAlso classified as Acrocephalosyndactyly type II.Crouzon syndrome-acanthosis nigricans syndromeBrachycephalyCurry-Jones syndromeCoronal (unilateral, sometimes bilateral)Cutis laxa, autosomal recessive, type 2E

D +ConditionImageImpacted suturesCranial shapeNotesSourcesDEGCAGS syndromePlagiocephalyMicrocephalyDevelopmental delay with short stature, dysmorphic facial features, and sparse hairScaphocephaly, trigonocephalyDistal 10q deletion syndromeDolichocephalyMicrocephalyDistal monosomy 7pDistal trisomy 1p36MetopicMicrocephalyDistal trisomy 5qMicrocephalyDistal symphalangism

E +ConditionImageImpacted suturesCranial shapeNotesSourcesEhlers-Danlos syndrome, spondylodysplastic typeMacrocephaly

F +ConditionImageImpacted suturesCranial shapeNotesSourcesFamilial scaphocephaly syndrome, McGillivray typeDolichocephalyFontaine progeroid syndromeCoronalBrachycephaly, turricephalyMicrocephalyFrontometaphyseal dysplasiaPart of oto-palato-digital syndrome spectrumFrontonasal dysplasia with alopecia and genital anomalyBrachycephaly, plagiocephaly (anterior)Microcephaly

G +ConditionImageImpacted suturesCranial shapeNotesSourcesGlass-Chapman-Hockley syndromeCoronalOnly seen in a single family.Gomez Lopez Hernandez syndromeBrachycephaly, turricephalyGreig cephalopolysyndactyly syndromeMetopicDolichocephaly/scaphocephaly, trigonocephalyDelayed suture closure, macrocephaly

H +ConditionImageImpacted suturesCranial shapeNotesSourcesHartsfield-Bixler-Demyer syndromeMicrocephalyHoloprosencephaly-craniosynostosis syndromeCoronalHunter-McAlpine craniosynostosisHyper-IgE recurrent infection syndromeScaphocephalyHypogonadotropic hypogonadism (TCF12)Coronal (bilateral)Plagiocephaly (anterior)Hypomandibular faciocranial dysostosisCoronalHypophosphatemic rickets, autosomal recessive (DMP1)

I +ConditionImageImpacted suturesCranial shapeNotesSourcesIMAGe syndromeMacrocephalyInfantile hypophosphatasiaIntellectual developmental disorder with autistic features and language delay, with or without seizuresMicrocephalyIntellectual disability, autosomal dominant (TLK2)MicrocephalyIntellectual disability, X-linked syndromic, Turner type (HUWE1)Brachycephaly, trigonocephalyMacrocephaly or microcephalyIntellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndromeBrachycephaly

J +ConditionImageImpacted suturesCranial shapeNotesSourcesJackson-Weiss syndrome

L +ConditionImageImpacted suturesCranial shapeNotesSourcesLarsen-like syndrome, B3GAT3 typeBrachycephalyLethal occipital encephalocele-skeletal dysplasia syndromeBrachycephalyLoeys-Dietz syndromeDolichocephalyLowry-MacLean syndromeMicrocephaly

M +ConditionImageImpacted suturesCranial shapeNotesSourcesMandibular prognathiaMarshall-Smith syndromeDolichocephalyMeier-Gorlin syndromeSagittalMicrocephaly (progressive)Metaphyseal acroscyphodysplasiaMetaphyseal chondrodysplasia-retinitis pigmentosa syndromeMacrocephalyMicrocephaly-micromelia syndromeMicrocephalyMonosomy 9q22.3 (microdeletion)MetopicSame characteristic features as Gorlin syndrome, including macrocephalyMosaic variegated aneuploidy syndromeDolichocephalyMicrocephalyMucolipidosis type IITrigonocephalyMuenke syndromeCoronalBrachycephaly, plagiocephalyMacrocephalyMultiple congenital anomalies-neurodevelopmental syndrome, X-linkedMetopicMacrocephaly or microcephaly

N +ConditionImageImpacted suturesCranial shapeNotesSourcesNeurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB)MicrocephalyNeurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID)MacrocephalyNeurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutationDolichocephalyNoonan syndrome-like disorder with loose anagen hair (PPP1CB)Macrocephaly (relative)

O +ConditionImageImpacted suturesCranial shapeNotesSourcesObesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndromeDescribed in 2 brothers, one of whom died within a month of birth.Osteoglophonic dysplasiaCloverleaf skullMild cloverleaf skull presentation closer to a more tower-shaped skull.Osteosclerosis, Stanescu typeBrachycephalyMicrocephalyOsteosclerosis-developmental delay-craniosynostosis syndromeBrachycephalyMacrocephaly; described in 13 patients from a four-generation family.

P +ConditionImageImpacted suturesCranial shapeNotesSourcesParenti-Mignot neurodevelopmental syndromePeters plus syndromeMacrocephaly or microcephalyPfeiffer syndromeCoronalBrachyturricephaly, cloverleaf skullAlso classified as Acrocephalosyndactyly type V.Potocki-Shaffer syndromeBrachycephaly, turricephalyProgeroid and marfanoid aspect-lipodystrophy syndromeScaphocephalyMacrocephalyPseudo-Hurler polydystrophy

R +ConditionImageImpacted suturesCranial shapeNotesSourcesRahman syndromeMacrocephalyRienhoff syndromeBrachycephaly, dolichocephalyUsually classified as LDS type 5.Roberts-SC phocomelia syndromeBrachycephalyMicrocephalyRobinow-Sorauf syndromePansynostosisPlagiocephalyNow classified as a variant of SCS.

S +ConditionImageImpacted suturesCranial shapeNotesSourcesSaethre-Chotzen syndromeCoronalBrachycephaly, oxycephaly, plagiocephalyDelayed suture closure; also classified as Acrocephalosyndactyly type III.Saldino-Mainzer syndromeScaphocephaly, trigonocephalyMicrocephalyShprintzen-Goldberg syndromeDolichocephaly, brachyturricephalyMicrocephalySLC39A8-CDGSpondyloepiphyseal dysplasia, Nishimura typeStructural brain anomalies with impaired intellectual development and craniosynostosisCoronalBrachycephalyMicrocephalySummitt syndromeOxycephalyLast reported 1979; now classified as Carpenter syndrome variant.Syndactyly type 1 (2q35 duplication)SagittalSyndactyly-telecanthus-anogenital and renal malformations syndrome

T +ConditionImageImpacted suturesCranial shapeNotesSourcesThanatophoric dysplasiaCloverleaf skullMacrocephalyTolchin-Le Caignec syndromeScaphocephaly, oxycephalyLarge head circumferenceTrigonocephaly (FGFR1)MetopicTrigonocephalyMicrocephaly; usually considered nonsyndromic.Trigonocephaly (FREM1)MetopicTrigonocephalyMicrocephaly; usually considered nonsyndromic.Trigonocephaly-broad thumbs syndromeTrigonocephalyDescribed in a mother and son.

V +ConditionImageImpacted suturesCranial shapeNotesSourcesVan den Ende-Gupta syndromeScaphocephaly

Z +ConditionImageImpacted suturesCranial shapeNotesSourcesZTTK syndromeMacrocephaly (can be relative)

References