HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 37
OrphanetNr:
OMIM Id: 614684
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 rare [HPO:skoehler] 347 / 7739
2
(HPO:0008689) Bilateral cryptorchidism 38 / 7739
3
(HPO:0000054) Micropenis 257 / 7739
4
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
5
(HPO:0000316) Hypertelorism 644 / 7739
6
(HPO:0000574) Thick eyebrow 96 / 7739
7
(HPO:0000219) Thin upper lip vermilion 112 / 7739
8
(HPO:0000343) Long philtrum 262 / 7739
9
(HPO:0010805) Upturned corners of mouth 1 / 7739
10
(HPO:0000154) Wide mouth 137 / 7739
11
(HPO:0000349) Widow's peak 26 / 7739
12
(HPO:0001999) Abnormal facial shape 169 / 7739
13
(HPO:0000431) Wide nasal bridge 290 / 7739
14
(HPO:0000396) Overfolded helix 21 / 7739
15
(HPO:0000377) Abnormality of the pinna 111 / 7739
16
(HPO:0001256) Intellectual disability, mild 141 / 7739
17
(HPO:0006610) Wide intermamillary distance 46 / 7739
18
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
19
(HPO:0000768) Pectus carinatum 136 / 7739
20
(HPO:0009803) Short phalanx of finger 79 / 7739
21
(HPO:0200055) Small hand 71 / 7739
22
(HPO:0001156) Brachydactyly syndrome 180 / 7739
23
(HPO:0000767) Pectus excavatum 244 / 7739
24
(HPO:0001500) Broad finger 9 / 7739
25
(HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
26
(HPO:0009789) Perianal abscess rare [HPO:skoehler] 4 / 7739
27
(HPO:0001698) Pericardial effusion rare [HPO:skoehler] 20 / 7739
28
(HPO:0011853) Serous pericardial effusion 3 / 7739
29
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
(OMIM) Cellulitis, recurrent 2 / 7739
31
(OMIM) Pectus carinatum, above 1 / 7739
32
(OMIM) Pectus excavatum, below 1 / 7739
33
(OMIM) Low-normal height 1 / 7739
34
(OMIM) Brachydactyly, relative 1 / 7739
35
(OMIM) Fleshy and overfolded helices 1 / 7739
36
(OMIM) Mental retardation, mild to moderate 33 / 7739
37
(OMIM) Pericarditis, inflammatory (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Spiegel et al. (2009) described 2 brothers, 15 years and 5 years old, and their 22-year-old male cousin, all born of unaffected consanguineous Muslim Arab parents, who displayed distinctive facial features consisting of hypertelorism, upslanting palpebral fissures, thick ...
Molecular genetics OMIM - Exclusion Studies

In 2 brothers and their male cousin with facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes, Spiegel et al. (2009) performed whole-genome array CGH and detected no pathogenic copy number ...