CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 36
OrphanetNr:
OMIM Id: 611929
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis 257 / 7739
2
 (HPO:0012368) Flat face 106 / 7739
3
 (HPO:0000278) Retrognathia 100 / 7739
4
 (HPO:0000465) Webbed neck 81 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0000272) Malar flattening 277 / 7739
7
 (HPO:0009755) Ankyloblepharon 10 / 7739
8
 (HPO:0000506) Telecanthus 156 / 7739
9
 (HPO:0000470) Short neck 345 / 7739
10
 (HPO:0000473) Torticollis 42 / 7739
11
 (HPO:0000377) Abnormality of the pinna 111 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0001256) Intellectual disability, mild 141 / 7739
14
 (HPO:0003298) Spina bifida occulta 67 / 7739
15
 (HPO:0010487) Small hypothenar eminence 4 / 7739
16
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
17
 (HPO:0009473) Joint contracture of the hand 84 / 7739
18
 (HPO:0001245) Small thenar eminence 10 / 7739
19
 (HPO:0012385) Camptodactyly 113 / 7739
20
 (HPO:0003868) Humeral cortical thickening 2 / 7739
21
 (HPO:0006109) Absent phalangeal crease 4 / 7739
22
 (HPO:0006429) Broad femoral neck 18 / 7739
23
 (HPO:0003764) Nevus 17 / 7739
24
 (HPO:0001324) Muscle weakness 859 / 7739
25
 (HPO:0010547) Muscle flaccidity 466 / 7739
26
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
27
 (HPO:0001252) Muscular hypotonia 990 / 7739
28
 (OMIM) Thin hands 1 / 7739
29
 (OMIM) Thin feet 1 / 7739
30
 (OMIM) Widened columella 1 / 7739
31
 (OMIM) External rotation 4th and 5th toes 1 / 7739
32
 (OMIM) Short sternocleidomastoid 1 / 7739
33
 (OMIM) Multiple nevi 4 / 7739
34
 (OMIM) Poorly defined palmar creases 1 / 7739
35
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
36
 (OMIM) Widened nasal tip 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Figuera et al. (2002) described a 4-generation Mexican family with camptodactyly, distinctive facial features, spinal defects, thin hands and feet, and mild mental retardation. Facial features included flat facies, telecanthus, simplified ears, retrognathia, and symblepharon pterygium. Other clinical ...