MCID: BRC106
MIFTS: 19

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 53 71
Macinnes Syndrome 53 71
Mcins 53 71
Btdd 53 71
Macinnes Syndrome; Mcins 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
brachycephaly, trichomegaly, and developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Brachycephaly, Trichomegaly, and Developmental Delay

UniProtKB/Swiss-Prot : 71 Brachycephaly, trichomegaly, and developmental delay: An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with 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, and has symptoms including cleft palate, high palate and microcephaly. An important gene associated with Brachycephaly, Trichomegaly, and Developmental Delay is RPS23 (Ribosomal Protein S23). Affiliated tissues include skin.

OMIM : 53 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:

53
Head And Neck Ears:
low-set ears
hearing loss, conductive
deformed ears
hearing loss, unilateral

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

Head And Neck Nose:
low nasal bridge

Muscle Soft Tissue:
hypotonia (patient a)

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 Hair:
hairy armpits
low back hairline
thin brittle hair (patient a)

Growth Height:
short stature

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

Skin Nails Hair Nails:
abnormal nails

Neurologic Central Nervous System:
learning disabilities (patient a)
intellectual disability, mild (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)

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


Clinical features from OMIM:

617412

Human phenotypes related to Brachycephaly, Trichomegaly, and Developmental Delay:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 high palate 31 HP:0000218
3 microcephaly 31 HP:0000252
4 epicanthus 31 HP:0000286
5 low-set ears 31 HP:0000369
6 abnormality of the pinna 31 HP:0000377
7 conductive hearing impairment 31 HP:0000405
8 long eyelashes 31 HP:0000527
9 thick eyebrow 31 HP:0000574
10 autistic behavior 31 HP:0000729
11 single transverse palmar crease 31 HP:0000954
12 intellectual disability, mild 31 HP:0001256
13 motor delay 31 HP:0001270
14 generalized hypotonia 31 HP:0001290
15 highly arched eyebrow 31 HP:0002553
16 short stature 31 HP:0004322
17 depressed nasal bridge 31 HP:0005280
18 flat occiput 31 HP:0005469
19 increased number of teeth 31 HP:0011069

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:

38
Skin

Publications for Brachycephaly, Trichomegaly, and Developmental Delay

Variations for Brachycephaly, Trichomegaly, and Developmental Delay

UniProtKB/Swiss-Prot genetic disease variations for Brachycephaly, Trichomegaly, and Developmental Delay:

71
# Symbol AA change Variation ID SNP ID
1 RPS23 p.Arg67Lys VAR_079133
2 RPS23 p.Phe120Ile VAR_079134

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

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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