Humerus trochlea aplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr: 3383
OMIM Id: 191000
ICD-10: Q74.0
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: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
2
 (HPO:0000175) Cleft palate 349 / 7739
3
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
4
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
5
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
6
 (HPO:0005792) Short humerus 34 / 7739
7
 (HPO:0000912) Sprengel anomaly Occasional [Orphanet] 51 / 7739
8
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
9
 (HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
10
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
11
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
12
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
13
 (HPO:0009775) Amniotic constriction ring Very frequent [Orphanet] 21 / 7739
14
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
15
 (OMIM) Aplastic humeral medial epicondyle 1 / 7739
16
 (OMIM) Displaced nonarticulating ulna 1 / 7739
17
 (OMIM) Webbed antecubital space 1 / 7739
18
 (OMIM) Flexed elbows 1 / 7739
19
 (OMIM) Aplasia of trochlea of humerus 1 / 7739
20
 (OMIM) Hypoplastic/absent biceps brachii 1 / 7739
21
 (OMIM) Pronated forearms 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: