SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr:
OMIM Id: 609654
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:0000175) Cleft palate 349 / 7739
2
(HPO:0000204) Cleft upper lip 193 / 7739
3
(HPO:0000218) High palate 356 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0000470) Short neck 345 / 7739
6
(HPO:0000508) Ptosis 459 / 7739
7
(HPO:0000396) Overfolded helix 21 / 7739
8
(HPO:0000369) Low-set ears 372 / 7739
9
(HPO:0000378) Cupped ear 34 / 7739
10
(HPO:0008551) Microtia 98 / 7739
11
(HPO:0000917) Superior pectus carinatum 11 / 7739
12
(HPO:0000767) Pectus excavatum 244 / 7739
13
(HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
14
(HPO:0000768) Pectus carinatum 136 / 7739
15
(HPO:0003310) Abnormality of the odontoid process 5 / 7739
16
(HPO:0000891) Cervical ribs 8 / 7739
17
(HPO:0003508) Proportionate short stature 12 / 7739
18
(HPO:0001629) Ventricular septal defect 316 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(OMIM) Sagittal cleft of vertebral body of L5 1 / 7739
21
(OMIM) L5-S1 fusion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Megarbane et al. (2004) described a Lebanese brother and sister, born of first-cousin parents, with short stature, microcephaly, ptosis, small, dysplastic, low-set ears, short neck, and pectus malformations (pectus carinatum superiorly and excavatum inferiorly). The boy also had ...