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Patterson-Stevenson-Fontaine syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Patterson Stevenson syndrome; Split-foot deformity with ectrodactyly and mandibulofacial dysostosis; SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS
SNOMED CT: Patterson Stevenson Fontaine syndrome (724069009); Split foot deformity with mandibulofacial dysostosis syndrome (724069009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0008465
OMIM®: 183700
Orphanet: ORPHA2439


A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity. [from SNOMEDCT_US]

Clinical features

From HPO
Toe syndactyly
MedGen UID:
Concept ID:
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Split foot
MedGen UID:
Concept ID:
Congenital Abnormality
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Split hand
MedGen UID:
Concept ID:
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Abnormality of the ear
MedGen UID:
Concept ID:
Congenital Abnormality
An abnormality of the ear.
MedGen UID:
Concept ID:
Congenital Abnormality
Developmental hypoplasia of the mandible.
Malar flattening
MedGen UID:
Concept ID:
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Mandibulofacial dysostosis
MedGen UID:
Concept ID:
Disease or Syndrome
Treacher Collins syndrome is a disorder of craniofacial development. The features include downslanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins Syndrome Treacher Collins syndrome-2 (TCS2; 613717) is caused by mutation in the POLR1D gene (613715) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3; 248390) is caused by mutation in the POLR1C gene (610060) on chromosome 6p21. Treacher Collins syndrome-4 (TCS4; 618939) is caused by mutation in the POLR1B gene (602000) on chromosome 2q14.
Cleft palate
MedGen UID:
Concept ID:
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPatterson-Stevenson-Fontaine syndrome

Recent clinical studies


Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M
Am J Med Genet 1993 Oct 1;47(5):660-78. doi: 10.1002/ajmg.1320470517. PMID: 8266994

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