MCID: BRC106
MIFTS: 13

Brachycephaly, Trichomegaly, and Developmental Delay

Categories: Genetic diseases

Aliases & Classifications for Brachycephaly, Trichomegaly, and Developmental Delay

MalaCards integrated aliases for Brachycephaly, Trichomegaly, and Developmental Delay:

Name: Brachycephaly, Trichomegaly, and Developmental Delay 54
Macinnes Syndrome 71
Mcins 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
two unrelated patients have been reported (last curated march 2017)


Classifications:



External Ids:

OMIM 54 617412
MedGen 40 CN241840
MeSH 42 D000015

Summaries for Brachycephaly, Trichomegaly, and Developmental Delay

UniProtKB/Swiss-Prot : 71 MacInnes syndrome: An autosomal dominant developmental disorder characterized by dysmorphic features of the face and hands, hearing loss, and short stature. Intellectual disability and autism spectrum disorder may be present in some patients.

MalaCards based summary : Brachycephaly, Trichomegaly, and Developmental Delay, is also known as macinnes syndrome. An important gene associated with Brachycephaly, Trichomegaly, and Developmental Delay is RPS23 (Ribosomal Protein S23). Affiliated tissues include skin.

OMIM : 54
BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017). (617412)

Related Diseases for Brachycephaly, Trichomegaly, and Developmental Delay

Symptoms & Phenotypes for Brachycephaly, Trichomegaly, and Developmental Delay

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Ears:
low-set ears
hearing loss, conductive
deformed ears
hearing loss, unilateral

Head And Neck- Nose:
low nasal bridge

Head And Neck- Head:
microcephaly (-2.5 sd)

Head And Neck- Teeth:
extra teeth (patient a)

Skeletal- Skull:
flat back of the skull

Skin Nails & Hair- Nails:
abnormal nails

Muscle Soft Tissue:
hypotonia (patient a)

Head And Neck- Eyes:
long eyelashes
arched eyebrows
epicanthal folds
bushy eyebrows

Skeletal- Hands:
short fingers
fetal finger pads
single transverse palmar crease

Neurologic- Central Nervous System:
intellectual disability, mild (patient a)
learning disabilities (patient a)
delayed motor development (patient b)

Head And Neck- Mouth:
high-arched palate (patient a)
cleft palate (patient b)

Skeletal:
loose joints (patient a)

Skin Nails & Hair- Skin:
elastic skin (patient a)
pigmented skin (patient a)

Skin Nails & Hair- Hair:
hairy armpits
low back hairline
thin brittle hair (patient a)

Neurologic- Behavioral Psychiatric Manifestations:
autism spectrum disorder (patient a)


Clinical features from OMIM:

617412

Drugs & Therapeutics for Brachycephaly, Trichomegaly, and Developmental Delay

Search Clinical Trials , NIH Clinical Center for Brachycephaly, Trichomegaly, and Developmental Delay

Genetic Tests for Brachycephaly, Trichomegaly, and Developmental Delay

Anatomical Context for Brachycephaly, Trichomegaly, and Developmental Delay

MalaCards organs/tissues related to Brachycephaly, Trichomegaly, and Developmental Delay:

39
Skin

Publications for Brachycephaly, Trichomegaly, and Developmental Delay

Variations for Brachycephaly, Trichomegaly, and Developmental Delay

ClinVar genetic disease variations for Brachycephaly, Trichomegaly, and Developmental Delay:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS23 NM_001025.4(RPS23): c.200G> A (p.Arg67Lys) single nucleotide variant Pathogenic rs1060505034 GRCh38 Chromosome 5, 82276483: 82276483
2 RPS23 NM_001025.4(RPS23): c.358T> A (p.Phe120Ile) single nucleotide variant Pathogenic rs1060505035 GRCh38 Chromosome 5, 82276183: 82276183

Expression for Brachycephaly, Trichomegaly, and Developmental Delay

Search GEO for disease gene expression data for Brachycephaly, Trichomegaly, and Developmental Delay.

Pathways for Brachycephaly, Trichomegaly, and Developmental Delay

GO Terms for Brachycephaly, Trichomegaly, and Developmental Delay

Sources for Brachycephaly, Trichomegaly, and Developmental Delay

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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