TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 273390
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000414) Bulbous nose 63 / 7739
3
(HPO:0002705) High, narrow palate 308 / 7739
4
(HPO:0000154) Wide mouth 137 / 7739
5
(HPO:0002714) Downturned corners of mouth 98 / 7739
6
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
7
(HPO:0001092) Absent lacrimal punctum 6 / 7739
8
(HPO:0007900) Hypoplastic lacrimal duct 2 / 7739
9
(HPO:0004467) Preauricular pit 39 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0003057) Tetraamelia 3 / 7739
12
(HPO:0000960) Sacral dimple 29 / 7739
13
(HPO:0002019) Constipation 194 / 7739
14
(HPO:0001537) Umbilical hernia 206 / 7739
15
(HPO:0001006) Hypotrichosis 219 / 7739
16
(HPO:0000968) Ectodermal dysplasia 46 / 7739
17
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
18
(OMIM) Susceptible to hyperthermia 2 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ohdo et al. (1987) described a 1-year-old child born to second-cousin parents who had tetraamelia, hypotrichosis, upward slanting palpebral fissures, lack of lacrimal openings, hypoplastic lacrimal ducts and sacs opening toward the exterior, prominent and bulbous nose, large ...