MCID: HYP816
MIFTS: 12

Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

MalaCards integrated aliases for Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes:

Name: Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

MalaCards based summary : Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes Related phenotypes are cryptorchidism and pericardial effusion

More information from OMIM: 614684

Related Diseases for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

Symptoms & Phenotypes for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

Human phenotypes related to Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 occasional (7.5%) HP:0000028
2 pericardial effusion 31 occasional (7.5%) HP:0001698
3 perianal abscess 31 occasional (7.5%) HP:0009789
4 hypertelorism 31 HP:0000316
5 pectus excavatum 31 HP:0000767
6 clinodactyly 31 HP:0030084
7 wide nasal bridge 31 HP:0000431
8 pectus carinatum 31 HP:0000768
9 abnormal facial shape 31 HP:0001999
10 brachydactyly 31 HP:0001156
11 thick eyebrow 31 HP:0000574
12 intellectual disability, mild 31 HP:0001256
13 long philtrum 31 HP:0000343
14 wide intermamillary distance 31 HP:0006610
15 wide mouth 31 HP:0000154
16 small hand 31 HP:0200055
17 thin upper lip vermilion 31 HP:0000219
18 micropenis 31 HP:0000054
19 upslanted palpebral fissure 31 HP:0000582
20 overfolded helix 31 HP:0000396
21 broad finger 31 HP:0001500
22 short phalanx of finger 31 HP:0009803
23 widow's peak 31 HP:0000349
24 upturned corners of mouth 31 HP:0010805

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
thick eyebrows
upslanting palpebral fissures

Head And Neck Mouth:
wide mouth
upturned corners of mouth
thin upper lip

Head And Neck Nose:
broad nasal bridge

Head And Neck Ears:
simple ears
fleshy and overfolded helices

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Neurologic Central Nervous System:
mental retardation, mild to moderate

Cardiovascular Heart:
pericarditis, inflammatory (in some patients)
pericardial effusion (in some patients)

Abdomen Gastrointestinal:
perianal abscess (rare)

Head And Neck Face:
long philtrum
widow's peak

Skin Nails Hair Hair:
widow's peak

Chest Breasts:
widely spaced nipples

Skeletal Hands:
short fingers
small hands
clinodactyly of fifth fingers
broad fingers
brachydactyly, relative

Genitourinary External Genitalia Male:
short penis

Growth Height:
low-normal height

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum, above
pectus excavatum, below

Skin Nails Hair Skin:
cellulitis, recurrent (rare)

Clinical features from OMIM:

614684

Drugs & Therapeutics for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

Search Clinical Trials , NIH Clinical Center for Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes

Genetic Tests for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

Anatomical Context for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

Publications for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

Articles related to Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes:

# Title Authors PMID Year
1
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. 56
19938075 2009

Variations for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

Expression for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

Search GEO for disease gene expression data for Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes.

Pathways for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

GO Terms for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

Sources for Hypertelorism and Other Facial Dysmorphism, Brachydactyly,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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