Distal limb deficiencies - micrognathia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA
SHFM3
SHSF3
Buttiens-Fryns syndrome
CHROMOSOME 10q24 DUPLICATION SYNDROME
10q24 microduplication syndrome
Number of Symptoms 45
OrphanetNr: 1307
OMIM Id: 246560
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Partial duplication of the long arm of chromosome 10
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000089) Renal hypoplasia 78 / 7739
2
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
3
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
4
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
5
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
6
 (HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
7
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0000171) Microglossia Occasional [Orphanet] 27 / 7739
10
 (HPO:0000218) High palate 356 / 7739
11
 (HPO:0000308) Microretrognathia 78 / 7739
12
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
13
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
16
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
17
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] rare [HPO:skoehler] 129 / 7739
18
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
19
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
20
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
21
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
22
 (HPO:0000377) Abnormality of the pinna 111 / 7739
23
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
24
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
25
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
26
 (HPO:0001249) Intellectual disability 1089 / 7739
27
 (HPO:0002997) Abnormality of the ulna Occasional [Orphanet] 75 / 7739
28
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
29
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
30
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
31
 (HPO:0001839) Split foot Occasional [Orphanet] 28 / 7739
32
 (HPO:0012385) Camptodactyly 113 / 7739
33
 (HPO:0001850) Abnormality of the tarsal bones Occasional [Orphanet] 40 / 7739
34
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
35
 (HPO:0010760) Absent toe Very frequent [Orphanet] 15 / 7739
36
 (HPO:0003028) Abnormality of the ankles Very frequent [Orphanet] 14 / 7739
37
 (HPO:0001171) Split hand 72 / 7739
38
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
39
 (HPO:0008404) Nail dystrophy 89 / 7739
40
 (HPO:0001807) Ridged nail 20 / 7739
41
 (OMIM) Hearing loss, conductive or mixed 2 / 7739
42
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
44
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
45
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 ...
Clinical Description OMIM Roscioli et al. (2004) described a large autosomal dominant pedigree segregating split-hand/foot linked to chromosome 10q24 (SHFM3). The phenotype was highly variable, ranging from the classic ectrodactyly deformity to partial absence of the thumb and agenesis of the ...
Molecular genetics OMIM De Mollerat et al. (2003) conducted mutation analysis of the dactylin gene (FBXW4; 608071) in 7 patients with split-hand/foot malformation (SHFM) and found no point mutations. However, Southern blot, pulsed field gel electrophoresis, and dosage analyses demonstrated a ...