DEDSSH
MCID: DVL022
MIFTS: 29

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 72 36
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 29 6 39
Loucks-Innes Syndrome 57 58 72
Dedssh 57 72
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®:

57 (Updated 05-Apr-2021)
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 : 72 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, also known as developmental delay with short stature, dysmorphic features, and sparse hair, is related to growth hormone deficiency and chromosome 17p13.3, centromeric, duplication syndrome. An important gene associated with Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair is DPH1 (Diphthamide Biosynthesis 1). Affiliated tissues include 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...

Diseases related to Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 growth hormone deficiency 10.2
2 chromosome 17p13.3, centromeric, duplication syndrome 9.5 OVCA2 DPH1

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 (showing 46, show less)
# 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 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
8 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
9 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
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 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
16 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
17 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
18 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
19 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
20 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
21 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
22 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
23 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
24 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
25 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
26 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
27 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
28 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
29 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
30 abnormality of the kidney 58 31 occasional (7.5%) Frequent (79-30%) HP:0000077
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 seizures 58 Occasional (29-5%)
42 abnormality of the dentition 31 HP:0000164
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®:

57 (Updated 05-Apr-2021)
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

Head And Neck Ears:
low-set ears

Genitourinary External Genitalia Male:
hypospadias

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Nails:
hypoplastic toenails

Skeletal Skull:
craniosynostosis

Head And Neck Head:
trigonocephaly
scaphocephaly

Genitourinary Kidneys:
renal anomalies (in some patients)

Clinical features from OMIM®:

616901 (Updated 05-Apr-2021)

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
Kidney

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

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

(showing 6, show less)
# Title Authors PMID Year
1
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. 6 57
30877278 2020
2
Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. 6 57
29362492 2018
3
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. 57 6
26220823 2015
4
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 57 6
25558065 2015
5
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. 57
21567916 2011
6
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome). 61
33704902 2021

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 (showing 12, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DPH1 NM_001383.4(DPH1):c.17T>A (p.Met6Lys) SNV Pathogenic 218949 rs757167361 GRCh37: 17:1933465-1933465
GRCh38: 17:2030171-2030171
2 DPH1 NM_001383.6(DPH1):c.476T>C (p.Leu159Pro) SNV Pathogenic 997985 GRCh37: 17:1939898-1939898
GRCh38: 17:2036604-2036604
3 DPH1 NM_001346576.1(DPH1):c.-10del Deletion Pathogenic 664140 rs756128712 GRCh37: 17:1937131-1937131
GRCh38: 17:2033837-2033837
4 DPH1 NM_001383.6(DPH1):c.320A>G (p.Tyr107Cys) SNV Pathogenic 997988 GRCh37: 17:1939305-1939305
GRCh38: 17:2036011-2036011
5 OVCA2 , DPH1 NM_001383.6(DPH1):c.*135_*136del Deletion Pathogenic 1033421 GRCh37: 17:1946015-1946016
GRCh38: 17:2042721-2042722
6 DPH1 NM_001383.4(DPH1):c.701T>C (p.Leu234Pro) SNV Pathogenic/Likely pathogenic 183359 rs730882250 GRCh37: 17:1943054-1943054
GRCh38: 17:2039760-2039760
7 DPH1 NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) SNV Likely pathogenic 521028 rs200530055 GRCh37: 17:1939344-1939344
GRCh38: 17:2036050-2036050
8 DPH1 NM_001383.6(DPH1):c.34C>A (p.Gln12Lys) SNV Uncertain significance 1029332 GRCh37: 17:1933497-1933497
GRCh38: 17:2030203-2030203
9 DPH1 NM_001383.6(DPH1):c.752A>G (p.Tyr251Cys) SNV Uncertain significance 1029333 GRCh37: 17:1943514-1943514
GRCh38: 17:2040220-2040220
10 DPH1 NM_001383.6(DPH1):c.1193G>A (p.Arg398His) SNV Uncertain significance 983087 GRCh37: 17:1944881-1944881
GRCh38: 17:2041587-2041587
11 DPH1 NM_001383.6(DPH1):c.721A>T (p.Ile241Phe) SNV Uncertain significance 1033422 GRCh37: 17:1943089-1943089
GRCh38: 17:2039795-2039795
12 DPH1 NM_001383.6(DPH1):c.80G>A (p.Arg27His) SNV Uncertain significance 1033423 GRCh37: 17:1936817-1936817
GRCh38: 17:2033523-2033523

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

72 (showing 2, show less)
# 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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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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