BTDD
MCID: BRC106
MIFTS: 21

Brachycephaly, Trichomegaly, and Developmental Delay (BTDD)

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 58 76
Macinnes Syndrome 58 76 6
Mcins 58 76
Btdd 58 76
Brachycephaly, Trichomegaly, and Developmental Delay ) 41
Macinnes Syndrome; Mcins 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
brachycephaly, trichomegaly, and developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Brachycephaly, Trichomegaly, and Developmental Delay

UniProtKB/Swiss-Prot : 76 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, also known as macinnes syndrome, is related to drug dependence and depression. An important gene associated with Brachycephaly, Trichomegaly, and Developmental Delay is RPS23 (Ribosomal Protein S23). Affiliated tissues include skin, and related phenotypes are low-set ears and high palate

OMIM : 58 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

Diseases related to Brachycephaly, Trichomegaly, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 drug dependence 10.1
2 depression 10.1

Symptoms & Phenotypes for Brachycephaly, Trichomegaly, and Developmental Delay

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

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 high palate 33 HP:0000218
3 depressed nasal bridge 33 HP:0005280
4 microcephaly 33 HP:0000252
5 thick eyebrow 33 HP:0000574
6 short stature 33 HP:0004322
7 intellectual disability, mild 33 HP:0001256
8 cleft palate 33 HP:0000175
9 epicanthus 33 HP:0000286
10 abnormality of the pinna 33 HP:0000377
11 motor delay 33 HP:0001270
12 increased number of teeth 33 HP:0011069
13 conductive hearing impairment 33 HP:0000405
14 flat occiput 33 HP:0005469
15 highly arched eyebrow 33 HP:0002553
16 long eyelashes 33 HP:0000527
17 generalized hypotonia 33 HP:0001290
18 autistic behavior 33 HP:0000729
19 single transverse palmar crease 33 HP:0000954
20 brittle hair 33 HP:0002299

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Skin

Publications for Brachycephaly, Trichomegaly, and Developmental Delay

Articles related to Brachycephaly, Trichomegaly, and Developmental Delay:

# Title Authors Year
1
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. ( 28257692 )
2017

Variations for Brachycephaly, Trichomegaly, and Developmental Delay

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

76
# Symbol AA change Variation ID SNP ID
1 RPS23 p.Arg67Lys VAR_079133 rs106050503
2 RPS23 p.Phe120Ile VAR_079134 rs106050503

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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35 ICD10 via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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