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 57 75
Macinnes Syndrome 57 75 6
Mcins 57 75
Btdd 57 75
Brachycephaly, Trichomegaly, and Developmental Delay ) 40
Macinnes Syndrome; Mcins 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
brachycephaly, trichomegaly, and developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Brachycephaly, Trichomegaly, and Developmental Delay

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Brachycephaly, Trichomegaly, and Developmental Delay is RPS23 (Ribosomal Protein S23). Affiliated tissues include skin, and related phenotypes are cleft palate and high palate

OMIM : 57 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:

57
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:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 high palate 32 HP:0000218
3 microcephaly 32 HP:0000252
4 epicanthus 32 HP:0000286
5 low-set ears 32 HP:0000369
6 abnormality of the pinna 32 HP:0000377
7 conductive hearing impairment 32 HP:0000405
8 long eyelashes 32 HP:0000527
9 thick eyebrow 32 HP:0000574
10 autistic behavior 32 HP:0000729
11 single transverse palmar crease 32 HP:0000954
12 intellectual disability, mild 32 HP:0001256
13 motor delay 32 HP:0001270
14 generalized hypotonia 32 HP:0001290
15 highly arched eyebrow 32 HP:0002553
16 short stature 32 HP:0004322
17 depressed nasal bridge 32 HP:0005280
18 flat occiput 32 HP:0005469
19 increased number of teeth 32 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:

41
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:

75
# 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.200G> A (p.Arg67Lys) single nucleotide variant Pathogenic rs1060505034 GRCh37 Chromosome 5, 81572302: 81572302
3 RPS23 NM_001025.4(RPS23): c.358T> A (p.Phe120Ile) single nucleotide variant Pathogenic rs1060505035 GRCh38 Chromosome 5, 82276183: 82276183
4 RPS23 NM_001025.4(RPS23): c.358T> A (p.Phe120Ile) single nucleotide variant Pathogenic rs1060505035 GRCh37 Chromosome 5, 81572002: 81572002

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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