PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr:
OMIM Id: 600399
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000336) Prominent supraorbital ridges 45 / 7739
2
(HPO:0000272) Malar flattening 277 / 7739
3
(HPO:0011800) Midface retrusion 221 / 7739
4
(HPO:0011220) Prominent forehead 137 / 7739
5
(HPO:0004482) Relative macrocephaly 44 / 7739
6
(HPO:0005280) Depressed nasal bridge 381 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0000767) Pectus excavatum 244 / 7739
9
(HPO:0004322) Short stature 1232 / 7739
10
(HPO:0002164) Nail dysplasia 82 / 7739
11
(HPO:0001252) Muscular hypotonia 990 / 7739
12
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
13
(HPO:0010547) Muscle flaccidity 466 / 7739
14
(HPO:0001324) Muscle weakness 859 / 7739
15
(OMIM) Developmental delay, primarily motor, resolves in childhood 1 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(OMIM) No abnormalities of sweating 1 / 7739
18
(OMIM) Small upturned nose 4 / 7739
19
(OMIM) No abnormalities of hair 1 / 7739
20
(OMIM) No abnormalities of teeth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zori et al. (1992) described a family in which several members had relative macrocephaly, pectus excavatum, short stature, dysplastic nails, and developmental delay that was primarily motor and resolved during childhood. There was one instance of male-to-male transmission. ...