MCID: SPL056
MIFTS: 19

Split-Foot Deformity with Mandibulofacial Dysostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Split-Foot Deformity with Mandibulofacial Dysostosis

MalaCards integrated aliases for Split-Foot Deformity with Mandibulofacial Dysostosis:

Name: Split-Foot Deformity with Mandibulofacial Dysostosis 56
Patterson-Stevenson-Fontaine Syndrome 56 52 58
Split-Foot Deformity with Ectrodactyly and Mandibulofacial Dysostosis 52 71
Split Foot Deformity-Mandibulofacial Dysostosis Syndrome 58
Patterson Stevenson Fontaine Syndrome 52
Patterson-Stevenson Syndrome 58
Polydactyly, Preaxial Ii 71

Characteristics:

Orphanet epidemiological data:

58
patterson-stevenson-fontaine syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant with variable expressivity and incomplete penetrance


HPO:

31
split-foot deformity with mandibulofacial dysostosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 183700
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1866741 C3489790
Orphanet 58 ORPHA2439
MedGen 41 C1868114
UMLS 71 C1866741 C1868114

Summaries for Split-Foot Deformity with Mandibulofacial Dysostosis

NIH Rare Diseases : 52 Patterson-Stevenson-Fontaine syndrome is a very rare syndrome characterized by abnormal development of the bones and tissues of the face (mandibulofacial dysostosis ) and limb abnormalities. Physical features of this condition may include a recessed jaw (retrognathism ), cleft palate , and anomalies of the external ears. Limb abnormalities may include the absence of toes, clefts in the feet , and fusion of toes together (syndactyly ). These limb abnormalities together are known as split-foot deformity or ectrodactyly . Patterson-Stevenson-Fontaine syndrome is inherited in an autosomal dominant manner. Diagnosis of the condition may be based on seeing symptoms in an individual that are consistent with the syndrome. Treatment is focused on improving the symptoms of each person.

MalaCards based summary : Split-Foot Deformity with Mandibulofacial Dysostosis, is also known as patterson-stevenson-fontaine syndrome. Affiliated tissues include bone, and related phenotypes are malar flattening and micrognathia

More information from OMIM: 183700

Related Diseases for Split-Foot Deformity with Mandibulofacial Dysostosis

Symptoms & Phenotypes for Split-Foot Deformity with Mandibulofacial Dysostosis

Human phenotypes related to Split-Foot Deformity with Mandibulofacial Dysostosis:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 micrognathia 31 HP:0000347
3 cleft palate 31 HP:0000175
4 split hand 31 HP:0001171
5 toe syndactyly 31 HP:0001770
6 abnormality of the ear 31 HP:0000598
7 split foot 31 HP:0001839
8 mandibulofacial dysostosis 31 HP:0005321

Symptoms via clinical synopsis from OMIM:

56
Limbs:
ectrodactyly
syndactyly of toes
split-hand
split-foot

Mouth:
complete/occult posterior cleft palate

Facies:
mandibulofacial dysostosis
mandibular hypoplasia
malar hypoplasia
retrognathism

Ears:
abnormal pinna

Clinical features from OMIM:

183700

Drugs & Therapeutics for Split-Foot Deformity with Mandibulofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Split-Foot Deformity with Mandibulofacial Dysostosis

Genetic Tests for Split-Foot Deformity with Mandibulofacial Dysostosis

Anatomical Context for Split-Foot Deformity with Mandibulofacial Dysostosis

MalaCards organs/tissues related to Split-Foot Deformity with Mandibulofacial Dysostosis:

40
Bone

Publications for Split-Foot Deformity with Mandibulofacial Dysostosis

Articles related to Split-Foot Deformity with Mandibulofacial Dysostosis:

(show all 12)
# Title Authors PMID Year
1
Patterson-Stevenson-Fontaine syndrome: 30-year follow-up and clinical details of a further affected case. 61 52 56
9098499 1997
2
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. 6
24777739 2014
3
Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly. 6
20569257 2011
4
Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes. 6
19519794 2009
5
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. 6
18463159 2008
6
Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. 6
17152067 2007
7
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. 6
12837695 2003
8
Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36. 6
10937618 2000
9
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. 6
8012392 1994
10
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. 61 52
8266994 1993
11
[Familial case of the syndrome of ectrodactyly and mandibulo-facial dysostosis]. 56
4376815 1974
12
CRANIO-FACIAL DYSOSTOSIS AND MALFORMATIONS OF FEET. 56
14234106 1964

Variations for Split-Foot Deformity with Mandibulofacial Dysostosis

Expression for Split-Foot Deformity with Mandibulofacial Dysostosis

Search GEO for disease gene expression data for Split-Foot Deformity with Mandibulofacial Dysostosis.

Pathways for Split-Foot Deformity with Mandibulofacial Dysostosis

GO Terms for Split-Foot Deformity with Mandibulofacial Dysostosis

Sources for Split-Foot Deformity with Mandibulofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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