MCID: SPL056
MIFTS: 27

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 57 6
Patterson-Stevenson-Fontaine Syndrome 57 20 58
Split-Foot Deformity with Ectrodactyly and Mandibulofacial Dysostosis 20 71
Split Foot Deformity-Mandibulofacial Dysostosis Syndrome 58
Patterson Stevenson Fontaine Syndrome 20
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®:

57 (Updated 05-Mar-2021)
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® 57 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

GARD : 20 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, also known as patterson-stevenson-fontaine syndrome, is related to polydactyly, preaxial ii and polydactyly. An important gene associated with Split-Foot Deformity with Mandibulofacial Dysostosis is ZRS (ZPA Regulatory Sequence). Related phenotypes are cleft palate and micrognathia

More information from OMIM: 183700

Related Diseases for Split-Foot Deformity with Mandibulofacial Dysostosis

Diseases related to Split-Foot Deformity with Mandibulofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial ii 9.6 ZRS PTCH1
2 polydactyly 9.6 ZRS PTCH1
3 holoprosencephaly 9.5 ZRS PTCH1

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 cleft palate 31 HP:0000175
2 micrognathia 31 HP:0000347
3 split hand 31 HP:0001171
4 malar flattening 31 HP:0000272
5 toe syndactyly 31 HP:0001770
6 split foot 31 HP:0001839
7 abnormality of the ear 31 HP:0000598
8 mandibulofacial dysostosis 31 HP:0005321

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

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. 20 57 61
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. 20 61
8266994 1993
11
[Familial case of the syndrome of ectrodactyly and mandibulo-facial dysostosis]. 57
4376815 1974
12
CRANIO-FACIAL DYSOSTOSIS AND MALFORMATIONS OF FEET. 57
14234106 1964

Variations for Split-Foot Deformity with Mandibulofacial Dysostosis

ClinVar genetic disease variations for Split-Foot Deformity with Mandibulofacial Dysostosis:

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZRS NM_022458.4(LMBR1):c.423+4618C>G SNV Pathogenic 4897 rs606231146 7:156584465-156584465 7:156791771-156791771
2 ZRS NM_022458.4(LMBR1):c.423+4818A>T SNV Pathogenic 4899 rs606231148 7:156584265-156584265 7:156791571-156791571
3 ZRS NM_022458.4(LMBR1):c.423+4842T>C SNV Pathogenic 4900 rs606231149 7:156584241-156584241 7:156791547-156791547
4 ZRS NM_022458.4(LMBR1):c.423+5252A>G SNV Pathogenic 4902 rs606231150 7:156583831-156583831 7:156791137-156791137
5 ZRS NM_022458.4(LMBR1):c.423+5134C>G SNV Pathogenic 4903 rs606231151 7:156583949-156583949 7:156791255-156791255
6 ZRS NM_022458.4(LMBR1):c.423+4808T>C SNV Pathogenic 4906 rs606231152 7:156584275-156584275 7:156791581-156791581
7 ZRS NM_022458.4(LMBR1):c.423+4909C>T SNV Pathogenic 4907 rs606231153 7:156584174-156584174 7:156791480-156791480
8 ZRS NM_022458.4(LMBR1):c.423+4810G>A SNV Pathogenic 30496 rs606231230 7:156584273-156584273 7:156791579-156791579
9 ZRS NM_022458.4(LMBR1):c.423+4847T>G SNV Pathogenic 30497 rs606231231 7:156584236-156584236 7:156791542-156791542
10 ZRS NM_022458.4(LMBR1):c.423+4915C>T SNV Pathogenic 126371 rs587779752 7:156584168-156584168 7:156791474-156791474
11 PTCH1 NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) SNV Likely pathogenic 135101 rs560967532 9:98211538-98211538 9:95449256-95449256
12 LMBR1 NM_022458.4(LMBR1):c.*3187A>G SNV Uncertain significance 912268 7:156473585-156473585 7:156680891-156680891
13 LMBR1 NM_022458.4(LMBR1):c.*2948G>T SNV Uncertain significance 912269 7:156473824-156473824 7:156681130-156681130
14 LMBR1 NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr) SNV Uncertain significance 359429 rs148974610 7:156556384-156556384 7:156763690-156763690
15 LMBR1 NM_022458.4(LMBR1):c.*2771G>A SNV Uncertain significance 908270 7:156474001-156474001 7:156681307-156681307
16 LMBR1 NM_022458.4(LMBR1):c.*2706A>G SNV Uncertain significance 908271 7:156474066-156474066 7:156681372-156681372
17 LMBR1 NM_022458.4(LMBR1):c.*2658T>C SNV Uncertain significance 908272 7:156474114-156474114 7:156681420-156681420
18 LMBR1 NM_022458.4(LMBR1):c.*1841T>A SNV Uncertain significance 908331 7:156474931-156474931 7:156682237-156682237
19 LMBR1 NM_022458.4(LMBR1):c.*1608C>T SNV Uncertain significance 908332 7:156475164-156475164 7:156682470-156682470
20 LMBR1 NM_022458.4(LMBR1):c.*1560T>A SNV Uncertain significance 908333 7:156475212-156475212 7:156682518-156682518
21 LMBR1 NM_022458.4(LMBR1):c.*2500A>G SNV Uncertain significance 359381 rs566692462 7:156474272-156474272 7:156681578-156681578
22 LMBR1 NM_022458.4(LMBR1):c.-158G>A SNV Uncertain significance 359442 rs886062123 7:156685845-156685845 7:156893151-156893151
23 LMBR1 NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu) SNV Uncertain significance 909247 7:156520694-156520694 7:156728000-156728000
24 LMBR1 NM_022458.4(LMBR1):c.*2519T>A SNV Uncertain significance 910210 7:156474253-156474253 7:156681559-156681559
25 LMBR1 NM_022458.4(LMBR1):c.*2458A>G SNV Uncertain significance 910211 7:156474314-156474314 7:156681620-156681620
26 LMBR1 NM_022458.4(LMBR1):c.*2451C>A SNV Uncertain significance 910212 7:156474321-156474321 7:156681627-156681627
27 LMBR1 NM_022458.4(LMBR1):c.*2262G>A SNV Uncertain significance 911110 7:156474510-156474510 7:156681816-156681816
28 LMBR1 NM_022458.4(LMBR1):c.*2147T>C SNV Uncertain significance 911111 7:156474625-156474625 7:156681931-156681931
29 LMBR1 NM_022458.4(LMBR1):c.*2088C>T SNV Uncertain significance 911112 7:156474684-156474684 7:156681990-156681990
30 LMBR1 NM_022458.4(LMBR1):c.*2080C>T SNV Uncertain significance 911113 7:156474692-156474692 7:156681998-156681998
31 LMBR1 NM_022458.4(LMBR1):c.*1150A>G SNV Uncertain significance 911169 7:156475622-156475622 7:156682928-156682928
32 LMBR1 NM_022458.4(LMBR1):c.-146C>T SNV Uncertain significance 908468 7:156685833-156685833 7:156893139-156893139
33 LMBR1 NM_022458.4(LMBR1):c.*1363G>T SNV Uncertain significance 909177 7:156475409-156475409 7:156682715-156682715
34 LMBR1 NM_022458.4(LMBR1):c.*1358C>T SNV Uncertain significance 909178 7:156475414-156475414 7:156682720-156682720
35 LMBR1 NM_022458.4(LMBR1):c.*1347A>G SNV Uncertain significance 909179 7:156475425-156475425 7:156682731-156682731
36 LMBR1 NM_022458.4(LMBR1):c.*1259C>T SNV Uncertain significance 909180 7:156475513-156475513 7:156682819-156682819
37 LMBR1 NM_022458.4(LMBR1):c.*1172C>T SNV Uncertain significance 909181 7:156475600-156475600 7:156682906-156682906
38 LMBR1 NM_022458.4(LMBR1):c.*916C>A SNV Uncertain significance 911171 7:156475856-156475856 7:156683162-156683162
39 LMBR1 NM_022458.4(LMBR1):c.627A>G (p.Thr209=) SNV Uncertain significance 911244 7:156554885-156554885 7:156762191-156762191
40 LMBR1 NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys) SNV Uncertain significance 911245 7:156556391-156556391 7:156763697-156763697
41 LMBR1 NM_022458.4(LMBR1):c.*2020T>C SNV Uncertain significance 911317 7:156474752-156474752 7:156682058-156682058
42 LMBR1 NM_022458.4(LMBR1):c.*245C>T SNV Uncertain significance 911372 7:156476527-156476527 7:156683833-156683833
43 LMBR1 NM_022458.4(LMBR1):c.*246G>A SNV Uncertain significance 359413 rs745661512 7:156476526-156476526 7:156683832-156683832
44 LMBR1 NM_022458.4(LMBR1):c.-176G>A SNV Uncertain significance 359443 rs886062124 7:156685863-156685863 7:156893169-156893169
45 LMBR1 NM_022458.4(LMBR1):c.*2016C>T SNV Uncertain significance 359390 rs529448700 7:156474756-156474756 7:156682062-156682062
46 LMBR1 NM_022458.4(LMBR1):c.1111T>G (p.Phe371Val) SNV Uncertain significance 359422 rs886062120 7:156518176-156518176 7:156725482-156725482
47 LMBR1 NM_022458.4(LMBR1):c.*728G>A SNV Uncertain significance 359405 rs886062116 7:156476044-156476044 7:156683350-156683350
48 LMBR1 NM_022458.4(LMBR1):c.*3180A>C SNV Uncertain significance 359368 rs886062110 7:156473592-156473592 7:156680898-156680898
49 LMBR1 NM_022458.4(LMBR1):c.*305G>A SNV Uncertain significance 359411 rs771023322 7:156476467-156476467 7:156683773-156683773
50 LMBR1 NM_022458.4(LMBR1):c.*650A>G SNV Uncertain significance 359408 rs886062117 7:156476122-156476122 7:156683428-156683428

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

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