MCID: DVL018
MIFTS: 21

Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Developmental Delay with Short Stature, Dysmorphic Features, and...

MalaCards integrated aliases for Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair:

Name: Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 57 75 29 6
Loucks-Innes Syndrome 57 75
Dedssh 57 75
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome 59
Developmental Delay-Short Stature-Dysmorphic Features-Sparse Hair Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood may occur
two unrelated families have been reported (last curated april 2016)


HPO:

32
developmental delay with short stature, dysmorphic features, and sparse hair:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental Delay with Short Stature, Dysmorphic Features, and...

UniProtKB/Swiss-Prot : 75 Developmental delay with short stature, dysmorphic features, and sparse hair: An autosomal recessive syndrome characterized by intellectual disability, short stature, and craniofacial and ectodermal anomalies including scaphocephaly with or without craniosynostosis, prominent forehead, sparse eyebrows and hair, hypoplastic toenails and, in some cases, dental anomalies.

MalaCards based summary : Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair, is also known as loucks-innes syndrome. An important gene associated with Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair is DPH1 (Diphthamide Biosynthesis 1). Affiliated tissues include kidney and bone, and related phenotypes are abnormality of the kidney and abnormality of the dentition

Description from OMIM: 616901

Related Diseases for Developmental Delay with Short Stature, Dysmorphic Features, and...

Symptoms & Phenotypes for Developmental Delay with Short Stature, Dysmorphic Features, and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
sparse eyelashes
downslanting palpebral fissures
epicanthal folds
sparse eyebrows

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
dandy-walker malformation (in some patients)
cerebellar vermis hypoplasia (in some patients)
posterior fossa abnormalities (in some patients)

Growth Height:
short stature

Skin Nails Hair Nails:
hypoplastic toenails

Skin Nails Hair Hair:
sparse hair

Head And Neck Teeth:
dental anomalies

Cardiovascular Heart:
ventricular septal defect (1 family)

Head And Neck Ears:
low-set ears

Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
prominent forehead
micrognathia

Skeletal Skull:
craniosynostosis

Head And Neck Head:
trigonocephaly
scaphocephaly

Genitourinary Kidneys:
renal anomalies (in some patients)


Clinical features from OMIM:

616901

Human phenotypes related to Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 abnormality of the kidney 32 occasional (7.5%) HP:0000077
2 abnormality of the dentition 32 HP:0000164
3 trigonocephaly 32 HP:0000243
4 epicanthus 32 HP:0000286
5 hypertelorism 32 HP:0000316
6 micrognathia 32 HP:0000347
7 low-set ears 32 HP:0000369
8 downslanted palpebral fissures 32 HP:0000494
9 sparse eyelashes 32 HP:0000653
10 intellectual disability 32 HP:0001249
11 global developmental delay 32 HP:0001263
12 dandy-walker malformation 32 occasional (7.5%) HP:0001305
13 craniosynostosis 32 HP:0001363
14 ventricular septal defect 32 HP:0001629
15 hypoplastic toenails 32 HP:0001800
16 short stature 32 HP:0004322
17 depressed nasal bridge 32 HP:0005280
18 prominent forehead 32 HP:0011220
19 scaphocephaly 32 HP:0030799
20 sparse eyebrow 32 HP:0045075

Drugs & Therapeutics for Developmental Delay with Short Stature, Dysmorphic Features, and...

Search Clinical Trials , NIH Clinical Center for Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair

Genetic Tests for Developmental Delay with Short Stature, Dysmorphic Features, and...

Genetic tests related to Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair:

# Genetic test Affiliating Genes
1 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 29 DPH1

Anatomical Context for Developmental Delay with Short Stature, Dysmorphic Features, and...

MalaCards organs/tissues related to Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair:

41
Kidney, Bone

Publications for Developmental Delay with Short Stature, Dysmorphic Features, and...

Variations for Developmental Delay with Short Stature, Dysmorphic Features, and...

UniProtKB/Swiss-Prot genetic disease variations for Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair:

75
# Symbol AA change Variation ID SNP ID
1 DPH1 p.Met6Lys VAR_076412 rs757167361
2 DPH1 p.Leu234Pro VAR_076413 rs730882250

ClinVar genetic disease variations for Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh38 Chromosome 17, 2039760: 2039760
2 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh37 Chromosome 17, 1943054: 1943054
3 DPH1 NM_001383.4(DPH1): c.17T> A (p.Met6Lys) single nucleotide variant Pathogenic/Likely pathogenic rs757167361 GRCh37 Chromosome 17, 1933465: 1933465
4 DPH1 NM_001383.4(DPH1): c.17T> A (p.Met6Lys) single nucleotide variant Pathogenic/Likely pathogenic rs757167361 GRCh38 Chromosome 17, 2030171: 2030171

Expression for Developmental Delay with Short Stature, Dysmorphic Features, and...

Search GEO for disease gene expression data for Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair.

Pathways for Developmental Delay with Short Stature, Dysmorphic Features, and...

GO Terms for Developmental Delay with Short Stature, Dysmorphic Features, and...

Sources for Developmental Delay with Short Stature, Dysmorphic Features, 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
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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
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