DEDSSH
MCID: DVL022
MIFTS: 23

Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair (DEDSSH)

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

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

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

Name: Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 57
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 74 29 6 40
Loucks-Innes Syndrome 57 74
Dedssh 57 74
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 facial features, and sparse hair:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 616901
Orphanet 59 ORPHA459061

Summaries for Developmental Delay with Short Stature, Dysmorphic Facial...

UniProtKB/Swiss-Prot : 74 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 Facial Features, and Sparse Hair, is also known as developmental delay with short stature, dysmorphic features, and sparse hair. An important gene associated with Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair is DPH1 (Diphthamide Biosynthesis 1). Affiliated tissues include bone and kidney, and related phenotypes are abnormality of the kidney and dandy-walker malformation

More information from OMIM: 616901

Related Diseases for Developmental Delay with Short Stature, Dysmorphic Facial...

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

Human phenotypes related to Developmental Delay with Short Stature, Dysmorphic Facial 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 dandy-walker malformation 32 occasional (7.5%) HP:0001305
3 hypertelorism 32 HP:0000316
4 low-set ears 32 HP:0000369
5 intellectual disability 32 HP:0001249
6 global developmental delay 32 HP:0001263
7 depressed nasal bridge 32 HP:0005280
8 abnormality of the dentition 32 HP:0000164
9 short stature 32 HP:0004322
10 prominent forehead 32 HP:0011220
11 micrognathia 32 HP:0000347
12 epicanthus 32 HP:0000286
13 hypoplastic toenails 32 HP:0001800
14 trigonocephaly 32 HP:0000243
15 downslanted palpebral fissures 32 HP:0000494
16 ventricular septal defect 32 HP:0001629
17 craniosynostosis 32 HP:0001363
18 sparse eyebrow 32 HP:0045075
19 sparse eyelashes 32 HP:0000653
20 scaphocephaly 32 HP:0030799

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

Skeletal Skull:
craniosynostosis

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

Head And Neck Head:
trigonocephaly
scaphocephaly

Skin Nails Hair Hair:
sparse hair

Genitourinary Kidneys:
renal anomalies (in some patients)

Clinical features from OMIM:

616901

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

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

Genetic Tests for Developmental Delay with Short Stature, Dysmorphic Facial...

Genetic tests related to Developmental Delay with Short Stature, Dysmorphic Facial 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 Facial...

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

41
Bone, Kidney

Publications for Developmental Delay with Short Stature, Dysmorphic Facial...

Articles related to Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair:

# Title Authors PMID Year
1
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. 8 71
26220823 2015
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 8 71
25558065 2015

Variations for Developmental Delay with Short Stature, Dysmorphic Facial...

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 17:1943054-1943054 17:2039760-2039760
2 DPH1 NM_001383.4(DPH1): c.17T> A (p.Met6Lys) single nucleotide variant Pathogenic/Likely pathogenic rs757167361 17:1933465-1933465 17:2030171-2030171
3 DPH1 NM_001383.4(DPH1): c.374T> C (p.Leu125Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs200530055 17:1939344-1939344 17:2036050-2036050

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

74
# Symbol AA change Variation ID SNP ID
1 DPH1 p.Met6Lys VAR_076412 rs757167361
2 DPH1 p.Leu234Pro VAR_076413 rs730882250

Expression for Developmental Delay with Short Stature, Dysmorphic Facial...

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

Pathways for Developmental Delay with Short Stature, Dysmorphic Facial...

GO Terms for Developmental Delay with Short Stature, Dysmorphic Facial...

Sources for Developmental Delay with Short Stature, Dysmorphic Facial...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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