MCID: SHR105
MIFTS: 16

Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay

Categories: Genetic diseases

Aliases & Classifications for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

MalaCards integrated aliases for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay:

Name: Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay 57 75 6
Srmmd 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features present
based on report of 4 patients from 3 families (last curated october 2017)


HPO:

32
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

UniProtKB/Swiss-Prot : 75 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay: A disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay.

MalaCards based summary : Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay, is also known as srmmd. An important gene associated with Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay is ARCN1 (Archain 1). Affiliated tissues include bone, and related phenotypes are scrotal hypoplasia and hypospadias

Description from OMIM: 617164

Related Diseases for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

Symptoms & Phenotypes for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
intrauterine growth retardation

Skeletal Skull:
microcephaly

Head And Neck Face:
micrognathia
retrognathia

Neurologic Central Nervous System:
motor delay
mental retardation
seizures (in 1 patient)
ataxic gait (in 1 patient)
delayed white matter myelination in t2-weighted images (in 1 patient)
more
Skeletal:
advanced bone age

Abdomen Gastrointestinal:
feeding difficulties (in some patients)
severe gastroesophageal reflux (in 1 patient)

Genitourinary External Genitalia Male:
hypospadias (in 1 patient)
micropenis (in 1 patient)
hypoplastic scrotum (in 1 patient)

Skeletal Pelvis:
coxa valga (in 1 patient)

Respiratory Nasopharynx:
obstructive sleep apnea (in 1 patient)

Chest Breasts:
widely spaced nipples (in 1 patient)

Skeletal Feet:
cutaneous syndactyly of second and third toes (in 1 patient)

Neurologic Behavioral Psychiatric Manifestations:
mild autism (in 1 patient)

Head And Neck Head:
microcephaly
scaphocephaly

Growth Height:
short stature

Head And Neck Eyes:
myopia
hypotelorism
astigmatism
divergent squint
posterior cataract, bilateral (in 1 patient)

Skeletal Limbs:
rhizomelic shortening
wide femoral neck (in some patients)
metaphyseal widening (in 1 patient)
limited extension of elbows (in 1 patient)
short bowed legs (in 1 patient)

Growth Weight:
low weight

Cardiovascular Heart:
ventricular septal defect (in 1 patient)

Head And Neck Mouth:
cleft palate (in 1 patient)
high-arched palate (in 1 patient)

Respiratory:
respiratory distress due to severe micrognathia (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
moderate sternal depression (in 1 patient)

Skeletal Hands:
laxity of small joints (in some patients)

Muscle Soft Tissue:
hypertrophic muscular appearance (in one family)


Clinical features from OMIM:

617164

Human phenotypes related to Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 scrotal hypoplasia 32 HP:0000046
2 hypospadias 32 HP:0000047
3 micropenis 32 HP:0000054
4 cleft palate 32 HP:0000175
5 high palate 32 HP:0000218
6 microcephaly 32 HP:0000252
7 retrognathia 32 HP:0000278
8 micrognathia 32 HP:0000347
9 astigmatism 32 HP:0000483
10 myopia 32 HP:0000545
11 hypotelorism 32 HP:0000601
12 intellectual disability 32 HP:0001249
13 seizures 32 HP:0001250
14 motor delay 32 HP:0001270
15 failure to thrive 32 HP:0001508
16 intrauterine growth retardation 32 HP:0001511
17 ventricular septal defect 32 HP:0001629
18 gait ataxia 32 HP:0002066
19 coxa valga 32 HP:0002673
20 obstructive sleep apnea 32 HP:0002870
21 metaphyseal widening 32 HP:0003016
22 2-3 toe syndactyly 32 HP:0004691
23 accelerated skeletal maturation 32 HP:0005616
24 broad femoral neck 32 occasional (7.5%) HP:0006429
25 rhizomelia 32 HP:0008905
26 feeding difficulties 32 occasional (7.5%) HP:0011968
27 scaphocephaly 32 HP:0030799

Drugs & Therapeutics for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

Search Clinical Trials , NIH Clinical Center for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay

Genetic Tests for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

Anatomical Context for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

MalaCards organs/tissues related to Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay:

41
Bone

Publications for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

Variations for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

ClinVar genetic disease variations for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARCN1 NM_001655.4(ARCN1): c.157_158delAG (p.Ser53Cysfs) deletion Pathogenic rs886040858 GRCh37 Chromosome 11, 118452114: 118452115
2 ARCN1 NM_001655.4(ARCN1): c.157_158delAG (p.Ser53Cysfs) deletion Pathogenic rs886040858 GRCh38 Chromosome 11, 118581399: 118581400
3 ARCN1 NM_001655.4(ARCN1): c.260C> A (p.Ser87Ter) single nucleotide variant Pathogenic rs886040859 GRCh37 Chromosome 11, 118452217: 118452217
4 ARCN1 NM_001655.4(ARCN1): c.260C> A (p.Ser87Ter) single nucleotide variant Pathogenic rs886040859 GRCh38 Chromosome 11, 118581502: 118581502
5 ARCN1 NM_001655.4(ARCN1): c.633delA (p.Val212Trpfs) deletion Pathogenic rs886040860 GRCh38 Chromosome 11, 118583994: 118583994
6 ARCN1 NM_001655.4(ARCN1): c.633delA (p.Val212Trpfs) deletion Pathogenic rs886040860 GRCh37 Chromosome 11, 118454709: 118454709

Expression for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

Search GEO for disease gene expression data for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay.

Pathways for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

GO Terms for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

Sources for Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and...

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
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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
Content
Loading form....