# 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 | Notes |
| 3MC syndrome | Spectrum of 4 syndromes: Carnevale, Mingarelli, Malpuech, and Michels. |
| 8q22.1 microdeletion syndrome | Microcephaly |
| 15q overgrowth syndrome | Macrocephaly; not seen in all cases. |

## A

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

## B

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

## C

| Condition | Impacted sutures | Cranial shape | Notes |
| Cardiocranial syndrome, Pfeiffer type | Sagittal | | |
| Carpenter syndrome | Coronal, sagittal | Brachycephaly, oxycephaly, trigonocephaly | Also classified as Acrocephalopolysyndactyly type II. |
| CEBALID syndrome | | Brachycephaly, dolichocephaly, plagiocephaly, platystencephaly, turricephaly | |
| Cerebrooculonasal syndrome | | Brachycephaly | Macrocephaly |
| Char syndrome | | | |
| Childhood hypophosphatasia | | Dolichocephaly | |
| Chromosome 5p13 duplication syndrome | | Brachycephaly, turricephaly | Macrocephaly |
| Cloverleaf skull syndrome | | Cloverleaf skull | Usually considered to be an isolated form. |
| Cloverleaf skull-asphyxiating thoracic dysplasia syndrome | | Cloverleaf skull | Last case reported in 1987. |
| Cloverleaf skull-multiple congenital anomalies syndrome | | Cloverleaf skull | Seen in 3 siblings from 1 family. |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome | | | Microcephaly |
| Cole-Carpenter syndrome | Coronal | Turricephaly | Macrocephaly |
| Cranioectodermal dysplasia | Metopic, sagittal | Cloverleaf skull, dolichocephaly/scaphocephaly, plagiocephaly | Macrocephaly |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development | | Brachycephaly | Macrocephaly or microcephaly |
| Craniofacial dyssynostosis | Lambdoid (bilateral), sagittal (posterior) | Brachycephaly, brachyturricephaly | |
| Craniofacial dysplasia - osteopenia syndrome | | Brachycephaly | |
| Craniofrontonasal dysplasia-Poland anomaly syndrome | | | Less than 10 known cases described. |
| Craniofrontonasal syndrome | Coronal | Brachycephaly | |
| Craniorhiny | | Oxycephaly/turricephaly | |
| Craniosynostosis, Boston type (MSX2) | Coronal | Brachycephaly, brachyturricephaly, trigonocephaly, turricephaly | Usually considered nonsyndromic. |
| Craniosynostosis (ALX4) | | | Susceptible cause; usually considered nonsyndromic. |
| Craniosynstosis (ZIC1) | | Brachycephaly, plagiocephaly, turricephaly | Can also feature delayed suture closure, microcephaly; usually considered nonsyndromic. |
| Craniosynostosis (SMAD6) | | | Usually considered nonsyndromic. |
| Craniosynostosis (TWIST1) | Coronal (right unicoronal), sagittal | Dolichocephaly/scaphocephaly, oxycephaly/turricephaly | Usually considered nonsyndromic. |
| Craniosynostosis (TCF12) | Coronal, sagittal | | Usually considered nonsyndromic. |
| Craniosynostosis (ERF) | Coronal, metopic, pansynostosis, sagittal | | Macrocephaly; usually considered nonsyndromic. |
| Craniosynostosis and dental anomalies | Coronal, metopic, sagittal | Brachycephaly, dolichocephaly/scaphocephaly, oxycephaly/turricephaly, trigonocephaly | |
| Craniosynostosis with anomalies of the cranial base and digits | | | |
| Craniosynostosis with ocular abnormalities and hallucal defects | | | |
| Craniosynostosis, Adelaide type | | | |
| Craniosynostosis, Philadelphia type | Sagittal | Dolichocephaly | Variable sagittal craniosynostosis penetrance. |
| Craniosynostosis-anal anomalies-porokeratosis syndrome | Coronal, sagittal | Brachycephaly | |
| Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome | Sagittal | Dolichocephaly | |
| Craniosynostosis-fibular aplasia syndrome | | | |
| Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome | Sagittal | Scaphocephaly | |
| Craniosynostosis-intellectual disability syndrome of 51N and Gettig | | | |
| Craniosynostosis-intellectual disability-clefting syndrome | | | Microcephaly |
| Craniosynostosis-intracranial calcifications syndrome | | | Microcephaly |
| Craniotelencephalic dysplasia | | | |
| Crouzon syndrome | Coronal, sagittal | Brachycephaly | Also classified as Acrocephalosyndactyly type II. |
| Crouzon syndrome-acanthosis nigricans syndrome | | Brachycephaly | |
| Curry-Jones syndrome | Coronal (unilateral, sometimes bilateral) | | |
| Cutis laxa, autosomal recessive, type 2E | | | |

## D

| Condition | Impacted sutures | Cranial shape | Notes |
| DEGCAGS syndrome | | Plagiocephaly | Microcephaly |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | | Scaphocephaly, trigonocephaly | |
| Distal 10q deletion syndrome | | Dolichocephaly | Microcephaly |
| Distal monosomy 7p | | | |
| Distal trisomy 1p36 | Metopic | | Microcephaly |
| Distal trisomy 5q | | | Microcephaly |
| Distal symphalangism | | | |

## E

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

## F

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

## G

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

## H

| Condition | Impacted sutures | Cranial shape | Notes |
| Hartsfield-Bixler-Demyer syndrome | | | Microcephaly |
| Holoprosencephaly-craniosynostosis syndrome | Coronal | | |
| Hunter-McAlpine craniosynostosis | | | |
| Hyper-IgE recurrent infection syndrome | | Scaphocephaly | |
| Hypogonadotropic hypogonadism (TCF12) | Coronal (bilateral) | Plagiocephaly (anterior) | |
| Hypomandibular faciocranial dysostosis | Coronal | | |
| Hypophosphatemic rickets, autosomal recessive (DMP1) | | | |

## I

| Condition | Cranial shape | Notes |
| IMAGe syndrome | | Macrocephaly |
| Infantile hypophosphatasia | | |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | | Microcephaly |
| Intellectual disability, autosomal dominant (TLK2) | | Microcephaly |
| Intellectual disability, X-linked syndromic, Turner type (HUWE1) | Brachycephaly, trigonocephaly | Macrocephaly or microcephaly |
| Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | Brachycephaly | |

## J

| Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
| Jackson-Weiss syndrome | | | | | |

## L

| Condition | Cranial shape | Notes |
| Larsen-like syndrome, B3GAT3 type | Brachycephaly | |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | Brachycephaly | |
| Loeys-Dietz syndrome | Dolichocephaly | |
| Lowry-MacLean syndrome | | Microcephaly |

## M

| Condition | Impacted sutures | Cranial shape | Notes |
| Mandibular prognathia | | | |
| Marshall-Smith syndrome | | Dolichocephaly | |
| Meier-Gorlin syndrome | Sagittal | | Microcephaly (progressive) |
| Metaphyseal acroscyphodysplasia | | | |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | | | Macrocephaly |
| Microcephaly-micromelia syndrome | | | Microcephaly |
| Monosomy 9q22.3 (microdeletion) | Metopic | | Same characteristic features as Gorlin syndrome, including macrocephaly |
| Mosaic variegated aneuploidy syndrome | | Dolichocephaly | Microcephaly |
| Mucolipidosis type II | | Trigonocephaly | |
| Muenke syndrome | Coronal | Brachycephaly, plagiocephaly | Macrocephaly |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | Metopic | | Macrocephaly or microcephaly |

## N

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

## O

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

## P

| Condition | Impacted sutures | Cranial shape | Notes |
| Parenti-Mignot neurodevelopmental syndrome | | | |
| Peters plus syndrome | | | Macrocephaly or microcephaly |
| Pfeiffer syndrome | Coronal | Brachyturricephaly, cloverleaf skull | Also classified as Acrocephalosyndactyly type V. |
| Potocki-Shaffer syndrome | | Brachycephaly, turricephaly | |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | | Scaphocephaly | Macrocephaly |
| Pseudo-Hurler polydystrophy | | | |

## R

| Condition | Impacted sutures | Cranial shape | Notes |
| Rahman syndrome | | | Macrocephaly |
| Rienhoff syndrome | | Brachycephaly, dolichocephaly | Usually classified as LDS type 5. |
| Roberts-SC phocomelia syndrome | | Brachycephaly | Microcephaly |
| Robinow-Sorauf syndrome | Pansynostosis | Plagiocephaly | Now classified as a variant of SCS. |

## S

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

## T

| Condition | Impacted sutures | Cranial shape | Notes |
| Thanatophoric dysplasia | | Cloverleaf skull | Macrocephaly |
| Tolchin-Le Caignec syndrome | | Scaphocephaly, oxycephaly | Large head circumference |
| Trigonocephaly (FGFR1) | Metopic | Trigonocephaly | Microcephaly; usually considered nonsyndromic. |
| Trigonocephaly (FREM1) | Metopic | Trigonocephaly | Microcephaly; usually considered nonsyndromic. |
| Trigonocephaly-broad thumbs syndrome | | Trigonocephaly | Described in a mother and son. |

## V

| Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
| Van den Ende-Gupta syndrome | | | Scaphocephaly | | |

## Z

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