HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHIC FEATURES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 613124
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000463) Anteverted nares 305 / 7739
2
(HPO:0000835) Adrenal hypoplasia 23 / 7739
3
(HPO:0005257) Thoracic hypoplasia 79 / 7739
4
(HPO:0009824) Upper limb undergrowth 8 / 7739
5
(HPO:0001561) Polyhydramnios 191 / 7739
6
(HPO:0001790) Nonimmune hydrops fetalis 15 / 7739
7
(HPO:0001789) Hydrops fetalis 63 / 7739
8
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
9
(OMIM) Frog-leg positioning of the legs 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Normal or near normal fetal movements 1 / 7739
12
(OMIM) Absence of germ cells 1 / 7739
13
(OMIM) Slight ankle varus deformity 1 / 7739
14
(OMIM) Gracile bones 1 / 7739
15
(OMIM) Anteriorly displaced ears 1 / 7739
16
(OMIM) Bilateral humeral fractures 1 / 7739
17
(OMIM) Edema at birth 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Abboy et al. (2008) described a brother and sister, both of whom died at less than 1 hour of age, with recurrent nonimmune hydrops fetalis of unknown etiology (see 236750). At birth, both individuals were noted to have ...