DEDSSH
MCID: DVL022
MIFTS: 26

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 73 36
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 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 facial 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 global developmental delay and abnormal facial shape

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 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
5 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
6 sparse eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0045075
7 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
8 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
9 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
10 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%) HP:0001800
11 dandy-walker malformation 58 31 occasional (7.5%) Frequent (79-30%) HP:0001305
12 trigonocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000243
13 camptodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012385
14 posterior fossa cyst 58 31 frequent (33%) Frequent (79-30%) HP:0007291
15 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
16 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
17 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
18 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
19 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
20 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
21 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
22 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
23 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
24 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
25 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
26 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
27 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
28 abnormality of the kidney 58 31 occasional (7.5%) Frequent (79-30%) HP:0000077
29 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
30 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
31 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
32 aortic valve stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001650
33 relative macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004482
34 tubulointerstitial nephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001970
35 enuresis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000805
36 sagittal craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004442
37 scaphocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030799
38 mild hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0012712
39 seizure 31 occasional (7.5%) HP:0001250
40 intellectual disability 31 HP:0001249
41 abnormality of the dentition 31 HP:0000164
42 seizures 58 Occasional (29-5%)
43 ventricular septal defect 31 HP:0001629
44 craniosynostosis 31 HP:0001363
45 sparse eyelashes 31 HP:0000653
46 cerebellar vermis hypoplasia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
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)

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

Head And Neck Face:
prominent forehead
micrognathia

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 Nose:
depressed nasal bridge

Growth Height:
short stature

Head And Neck Ears:
low-set ears

Skeletal Skull:
craniosynostosis

Head And Neck Head:
trigonocephaly
scaphocephaly

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. 6 56
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
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43 MeSH
44 MESH via Orphanet
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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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