MCID: SPL056
MIFTS: 17

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 58
Patterson-Stevenson-Fontaine Syndrome 58 54 60
Split-Foot Deformity with Ectrodactyly and Mandibulofacial Dysostosis 54 74
Split Foot Deformity-Mandibulofacial Dysostosis Syndrome 60
Patterson Stevenson Fontaine Syndrome 54
Patterson-Stevenson Syndrome 60
Polydactyly, Preaxial Ii 74

Characteristics:

Orphanet epidemiological data:

60
patterson-stevenson-fontaine syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant with variable expressivity and incomplete penetrance


HPO:

33
split-foot deformity with mandibulofacial dysostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 183700
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C1866741 C3489790
Orphanet 60 ORPHA2439
MedGen 43 C1868114

Summaries for Split-Foot Deformity with Mandibulofacial Dysostosis

NIH Rare Diseases : 54 Patterson-Stevenson-Fontaine syndromeis 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 cleft palate

Description 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 cleft palate 33 HP:0000175
3 micrognathia 33 HP:0000347
4 split hand 33 HP:0001171
5 toe syndactyly 33 HP:0001770
6 split foot 33 HP:0001839
7 abnormality of the ear 33 HP:0000598
8 mandibulofacial dysostosis 33 HP:0005321

Symptoms via clinical synopsis from OMIM:

58
Limbs:
ectrodactyly
syndactyly of toes
split-hand
split-foot

Mouth:
complete/occult posterior cleft palate

Facies:
mandibular hypoplasia
malar hypoplasia
mandibulofacial dysostosis
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:

42
Bone

Publications for Split-Foot Deformity with Mandibulofacial Dysostosis

Articles related to Split-Foot Deformity with Mandibulofacial Dysostosis:

# Title Authors Year
1
Patterson-Stevenson-Fontaine syndrome: 30-year follow-up and clinical details of a further affected case. ( 9098499 )
1997

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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