DEDSSH
MCID: DVL022
MIFTS: 25

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 56 36
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 73 29 6 39
Loucks-Innes Syndrome 56 73
Dedssh 56 73
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome 58
Developmental Delay-Short Stature-Dysmorphic Features-Sparse Hair Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

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


HPO:

31
developmental delay with short stature, dysmorphic facial features, and sparse hair:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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

UniProtKB/Swiss-Prot : 73 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 dandy-walker malformation and abnormality of the kidney

KEGG : 36 Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) is an autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies. It has been reported that DPH1 is responsible gene for DEDSSH.

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:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dandy-walker malformation 58 31 occasional (7.5%) Frequent (79-30%) HP:0001305
2 abnormality of the kidney 58 31 occasional (7.5%) Frequent (79-30%) HP:0000077
3 hypertelorism 58 31 Occasional (29-5%) HP:0000316
4 low-set ears 58 31 Occasional (29-5%) HP:0000369
5 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
6 depressed nasal bridge 58 31 Frequent (79-30%) HP:0005280
7 short stature 58 31 Very frequent (99-80%) HP:0004322
8 micrognathia 58 31 Occasional (29-5%) HP:0000347
9 downslanted palpebral fissures 58 31 Occasional (29-5%) HP:0000494
10 prominent forehead 58 31 Very frequent (99-80%) HP:0011220
11 epicanthus 58 31 Occasional (29-5%) HP:0000286
12 hypoplastic toenails 58 31 Frequent (79-30%) HP:0001800
13 trigonocephaly 58 31 Frequent (79-30%) HP:0000243
14 sparse eyebrow 58 31 Very frequent (99-80%) HP:0045075
15 scaphocephaly 58 31 Occasional (29-5%) HP:0030799
16 agenesis of corpus callosum 58 Occasional (29-5%)
17 intellectual disability 31 HP:0001249
18 seizures 58 Occasional (29-5%)
19 sleep apnea 58 Occasional (29-5%)
20 hydrocephalus 58 Frequent (79-30%)
21 inguinal hernia 58 Occasional (29-5%)
22 widely spaced teeth 58 Occasional (29-5%)
23 abnormality of the dentition 31 HP:0000164
24 pes planus 58 Frequent (79-30%)
25 abnormal facial shape 58 Very frequent (99-80%)
26 craniosynostosis 31 HP:0001363
27 ventricular septal defect 31 HP:0001629
28 brachycephaly 58 Occasional (29-5%)
29 cleft palate 58 Occasional (29-5%)
30 attention deficit hyperactivity disorder 58 Occasional (29-5%)
31 anxiety 58 Occasional (29-5%)
32 atrial septal defect 58 Occasional (29-5%)
33 small hand 58 Occasional (29-5%)
34 cerebellar vermis hypoplasia 58 Frequent (79-30%)
35 bilateral single transverse palmar creases 58 Occasional (29-5%)
36 sparse scalp hair 58 Very frequent (99-80%)
37 aortic valve stenosis 58 Occasional (29-5%)
38 camptodactyly 58 Frequent (79-30%)
39 sparse eyelashes 31 HP:0000653
40 relative macrocephaly 58 Occasional (29-5%)
41 tubulointerstitial nephritis 58 Occasional (29-5%)
42 enuresis 58 Occasional (29-5%)
43 posterior fossa cyst 58 Frequent (79-30%)
44 sagittal craniosynostosis 58 Occasional (29-5%)
45 mild hearing impairment 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

Skeletal Skull:
craniosynostosis

Head And Neck Head:
trigonocephaly
scaphocephaly

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:
micrognathia
prominent forehead

Skin Nails Hair Nails:
hypoplastic toenails

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:

40
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. 56 6
26220823 2015
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 56 6
25558065 2015
3
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. 56
21567916 2011

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DPH1 NM_001383.4(DPH1):c.701T>C (p.Leu234Pro)SNV Pathogenic/Likely pathogenic 183359 rs730882250 17:1943054-1943054 17:2039760-2039760
2 DPH1 NM_001383.4(DPH1):c.17T>A (p.Met6Lys)SNV Pathogenic/Likely pathogenic 218949 rs757167361 17:1933465-1933465 17:2030171-2030171
3 DPH1 NM_001383.4(DPH1):c.374T>C (p.Leu125Pro)SNV Conflicting interpretations of pathogenicity 521028 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:

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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