Autosomal recessive amelia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr: 1027
OMIM Id: 601360
ICD-10: Q73.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

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:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
(HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
3
(HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
4
(HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
5
(HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
6
(HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
7
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
8
(HPO:0009827) Amelia 12 / 7739
9
(HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
10
(HPO:0004760) Congenital septal defect Very frequent [Orphanet] 69 / 7739
11
(HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
12
(OMIM) Severe underdevelopment of legs 1 / 7739
13
(OMIM) Amelia of arms 1 / 7739
14
(HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
15
(HPO:0040064) Abnormality of limbs Very frequent [Orphanet] 16 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Michaud et al. (1995) described a French-Canadian family in which 3 fetuses of both sexes had amelia of the upper limbs with severe underdevelopment of the lower limbs. In the first fetus, absence of both upper limbs and ...