MCID: MCR326
MIFTS: 13

Microcephaly-Micromelia Syndrome

Categories: Genetic diseases

Aliases & Classifications for Microcephaly-Micromelia Syndrome

MalaCards integrated aliases for Microcephaly-Micromelia Syndrome:

Name: Microcephaly-Micromelia Syndrome 54 69

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency among cree indians from saskatchewan
death in utero or in the perinatal period due to respiratory failure


HPO:

32
microcephaly-micromelia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly-Micromelia Syndrome

OMIM : 54
Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017). (251230)

MalaCards based summary : Microcephaly-Micromelia Syndrome and has symptoms including microcephaly, intrauterine growth retardation and micromelia. An important gene associated with Microcephaly-Micromelia Syndrome is DONSON (Downstream Neighbor Of SON). Affiliated tissues include lung and bone.

Related Diseases for Microcephaly-Micromelia Syndrome

Symptoms & Phenotypes for Microcephaly-Micromelia Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Nose:
broad nose
beaked nose

Head And Neck- Face:
micrognathia

Head And Neck- Eyes:
short palpebral fissures
microphthalmia

Skeletal- Feet:
club feet
toe abnormalities

Prenatal Manifestations- Amniotic Fluid:
oligohydramnios
cystic hygroma

Skeletal- Skull:
craniosynostosis

Skeletal- Hands:
oligodactyly
thumb abnormalities
absence of the thumb
poorly developed fifth fingers
bifid metacarpal bones

Chest- Ribs Sternum Clavicles And Scapulae:
rib abnormalities

Head And Neck- Ears:
low-set ears

Growth- Other:
intrauterine growth retardation

Head And Neck- Mouth:
cleft palate
microstomia

Head And Neck- Neck:
short neck

Skeletal- Limbs:
micromelia
humeroradial synostosis
limb malformations (particularly of the arms)
hypoplastic or absent radius
hypoplastic or absent ulna
more
Respiratory- Lung:
hypoplastic lungs

Neurologic- Central Nervous System:
simplified gyral pattern
hypoplastic or absent corpus callosum
decreased sulci and gyri
diminished white matter
interhemispheric cysts

Head And Neck- Head:
microcephaly, severe (up to -10 sd)


Clinical features from OMIM:

251230

Human phenotypes related to Microcephaly-Micromelia Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intrauterine growth retardation 32 HP:0001511
3 micromelia 32 HP:0002983
4 abnormality of the hand 32 HP:0001155
5 forearm undergrowth 32 HP:0009821

Drugs & Therapeutics for Microcephaly-Micromelia Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephaly-Micromelia Syndrome

Genetic Tests for Microcephaly-Micromelia Syndrome

Anatomical Context for Microcephaly-Micromelia Syndrome

MalaCards organs/tissues related to Microcephaly-Micromelia Syndrome:

39
Lung, Bone

Publications for Microcephaly-Micromelia Syndrome

Variations for Microcephaly-Micromelia Syndrome

ClinVar genetic disease variations for Microcephaly-Micromelia Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DONSON NM_017613.3(DONSON): c.1047-9A> G single nucleotide variant Pathogenic rs779149681 GRCh38 Chromosome 21, 33582064: 33582064

Expression for Microcephaly-Micromelia Syndrome

Search GEO for disease gene expression data for Microcephaly-Micromelia Syndrome.

Pathways for Microcephaly-Micromelia Syndrome

GO Terms for Microcephaly-Micromelia Syndrome

Sources for Microcephaly-Micromelia Syndrome

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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