SRMMD
MCID: SHR105
MIFTS: 21

Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay (SRMMD)

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 72 29 6
Srmmd 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
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 : 72 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 feeding difficulties and broad femoral neck

More information from OMIM: 617164

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

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

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

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 feeding difficulties 31 occasional (7.5%) HP:0011968
2 broad femoral neck 31 occasional (7.5%) HP:0006429
3 intellectual disability 31 HP:0001249
4 failure to thrive 31 HP:0001508
5 high palate 31 HP:0000218
6 microcephaly 31 HP:0000252
7 cleft palate 31 HP:0000175
8 intrauterine growth retardation 31 HP:0001511
9 wide intermamillary distance 31 HP:0006610
10 retrognathia 31 HP:0000278
11 micrognathia 31 HP:0000347
12 myopia 31 HP:0000545
13 motor delay 31 HP:0001270
14 micropenis 31 HP:0000054
15 hypospadias 31 HP:0000047
16 ventricular septal defect 31 HP:0001629
17 hypotelorism 31 HP:0000601
18 coxa valga 31 HP:0002673
19 accelerated skeletal maturation 31 HP:0005616
20 gait ataxia 31 HP:0002066
21 scrotal hypoplasia 31 HP:0000046
22 astigmatism 31 HP:0000483
23 rhizomelia 31 HP:0008905
24 obstructive sleep apnea 31 HP:0002870
25 2-3 toe syndactyly 31 HP:0004691
26 metaphyseal widening 31 HP:0003016
27 scaphocephaly 31 HP:0030799
28 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
intrauterine growth retardation

Skeletal Skull:
microcephaly

Head And Neck Face:
retrognathia
micrognathia

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 (Updated 05-Apr-2021)

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...

Genetic tests related to Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay:

# Genetic test Affiliating Genes
1 Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay 29 ARCN1

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

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

40
Bone

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

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

# Title Authors PMID Year
1
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. 57 6
27476655 2016
2
Microcephaly, muscular build, rhizomelia, and cataracts: description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology. 57 6
9021021 1997

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 Name Type Significance ClinVarId dbSNP ID Position
1 ARCN1 NM_001655.5(ARCN1):c.633del (p.Val212fs) Deletion Pathogenic 267210 rs886040860 GRCh37: 11:118454706-118454706
GRCh38: 11:118583991-118583991
2 ARCN1 NM_001655.5(ARCN1):c.153_154AG[2] (p.Ser53fs) Microsatellite Pathogenic 267208 rs886040858 GRCh37: 11:118452110-118452111
GRCh38: 11:118581395-118581396
3 ARCN1 NM_001655.5(ARCN1):c.260C>A (p.Ser87Ter) SNV Pathogenic 267209 rs886040859 GRCh37: 11:118452217-118452217
GRCh38: 11:118581502-118581502
4 ARCN1 NM_001655.5(ARCN1):c.934C>T (p.Arg312Ter) SNV Pathogenic 1033438 GRCh37: 11:118461171-118461171
GRCh38: 11:118590456-118590456
5 ARCN1 NM_001655.5(ARCN1):c.1319G>A (p.Trp440Ter) SNV Likely pathogenic 1033437 GRCh37: 11:118468499-118468499
GRCh38: 11:118597784-118597784
6 ARCN1 NM_001655.5(ARCN1):c.654-15A>G SNV Likely pathogenic 805895 rs1591385240 GRCh37: 11:118455180-118455180
GRCh38: 11:118584465-118584465
7 ARCN1 NM_001655.5(ARCN1):c.1276G>A (p.Asp426Asn) SNV Uncertain significance 638398 rs781853184 GRCh37: 11:118468456-118468456
GRCh38: 11:118597741-118597741
8 ARCN1 NM_001655.5(ARCN1):c.752C>T (p.Ser251Phe) SNV Likely benign 977886 GRCh37: 11:118455293-118455293
GRCh38: 11:118584578-118584578
9 ARCN1 NM_001655.5(ARCN1):c.1256C>T (p.Ala419Val) SNV Likely benign 977891 GRCh37: 11:118468436-118468436
GRCh38: 11:118597721-118597721

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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