Tel Hashomer camptodactyly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: TEL HASHOMER CAMPTODACTYLY SYNDROME
Number of Symptoms 63
OrphanetNr: 3292
OMIM Id: 211960
ICD-10: Q74.0
UMLs: C1859356
MeSH: C536953
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic skeletal muscle disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
2
(HPO:0000046) Scrotal hypoplasia Occasional [Orphanet] 54 / 7739
3
(HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
4
(HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
5
(HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
6
(HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
7
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
8
(HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
9
(HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
10
(HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
11
(HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
12
(HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
13
(HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
14
(HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
15
(HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
16
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
17
(HPO:0008544) Abnormally folded helix Occasional [Orphanet] 24 / 7739
18
(HPO:0009738) Abnormality of the antihelix Occasional [Orphanet] 37 / 7739
19
(HPO:0004404) Abnormality of the nipple Occasional [Orphanet] 54 / 7739
20
(HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
21
(HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
22
(HPO:0012385) Camptodactyly 113 / 7739
23
(HPO:0010487) Small hypothenar eminence 4 / 7739
24
(HPO:0001182) Tapered finger Very frequent [Orphanet] 93 / 7739
25
(HPO:0002414) Spina bifida 47 / 7739
26
(HPO:0009473) Joint contracture of the hand 84 / 7739
27
(HPO:0006487) Bowing of the long bones Occasional [Orphanet] 95 / 7739
28
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
29
(HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
30
(HPO:0003100) Slender long bone Occasional [Orphanet] 45 / 7739
31
(HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
32
(HPO:0001780) Abnormality of toe Occasional [Orphanet] 5 / 7739
33
(HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
34
(HPO:0005689) Dermatoglyphic ridges abnormal 1 / 7739
35
(HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
36
(HPO:0001245) Small thenar eminence 10 / 7739
37
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
38
(HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
39
(HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
40
(HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
41
(HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
42
(HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
43
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
44
(HPO:0000023) Inguinal hernia 181 / 7739
45
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
46
(HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
47
(HPO:0001634) Mitral valve prolapse 69 / 7739
48
(HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
49
(HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
50
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
51
(HPO:0001012) Multiple lipomas Occasional [Orphanet] 43 / 7739
52
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
53
(HPO:0003457) EMG abnormality 78 / 7739
54
(HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
55
(HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
56
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
57
(OMIM) Whorls, seven or more digits 1 / 7739
58
(OMIM) Thenar and hypothenar hypoplasia 1 / 7739
59
(OMIM) Hypoplasia 2 / 7739
60
(OMIM) Numerous palmar creases 1 / 7739
61
(OMIM) Creatine kinase high 1 / 7739
62
(OMIM) Sweat pores abnormal 1 / 7739
63
(OMIM) Interphalangeal finger creases absent 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Goodman et al. (1972) described a brother and sister who had camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases. The sister had clubfeet. The brother had an inguinal hernia. Interphalangeal finger creases were completely absent in ...