ELEJAS
MCID: ACR025
MIFTS: 33

Acrocephalopolydactylous Dysplasia (ELEJAS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acrocephalopolydactylous Dysplasia

MalaCards integrated aliases for Acrocephalopolydactylous Dysplasia:

Name: Acrocephalopolydactylous Dysplasia 58 54 60 74
Elejalde Syndrome 58 77 54 60 76
Elejalde Disease 58 60 76 74
Neuroectodermal Melanolysosomal Disease 58 60 76
Acrocephalopolydactyly 60
Elejas 76

Characteristics:

Orphanet epidemiological data:

60
acrocephalopolydactyly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;
neuroectodermal melanolysosomal disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
perinatal lethality


HPO:

33
acrocephalopolydactylous dysplasia:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance

elejalde disease:
Onset and clinical course infantile onset
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Acrocephalopolydactylous Dysplasia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 221054Disease definitionAcrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrocephalopolydactylous Dysplasia, also known as elejalde syndrome, is related to griscelli syndrome, type 1 and griscelli syndrome, and has symptoms including seizures, ataxia and thick skin. An important gene associated with Acrocephalopolydactylous Dysplasia is MYO5A (Myosin VA). Affiliated tissues include skin, kidney and bone, and related phenotypes are hypertelorism and short neck

OMIM : 58 Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011). (200995)

UniProtKB/Swiss-Prot : 76 Elejalde syndrome: Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I.

Wikipedia : 77 Elejalde syndrome (also known as Griscelli syndrome type 1) is an extremely rare autosomal recessive... more...

Related Diseases for Acrocephalopolydactylous Dysplasia

Diseases related to Acrocephalopolydactylous Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 11.1
2 griscelli syndrome 10.1
3 hypotonia 10.1

Symptoms & Phenotypes for Acrocephalopolydactylous Dysplasia

Human phenotypes related to Acrocephalopolydactylous Dysplasia:

60 33 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
5 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
6 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
7 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
8 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
9 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
10 short long bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003026
11 genu recurvatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002816
12 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
13 cystic hygroma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000476
14 premature graying of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002216
15 hypopigmentation of hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0005599
16 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
17 abnormality of the mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000153
18 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
19 thoracic hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005257
20 abnormal renal morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0012210
21 hepatosplenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001433
22 hypopigmentation of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001010
23 limb undergrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009826
24 protuberant abdomen 60 33 hallmark (90%) Very frequent (99-80%) HP:0001538
25 oxycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000263
26 premature closure of fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0005458
27 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
28 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
29 pancreatic fibrosis 33 frequent (33%) HP:0100732
30 omphalocele 33 frequent (33%) HP:0001539
31 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
32 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
33 spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001257
34 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
35 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
36 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
37 muscle stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003552
38 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
39 rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002063
40 aplasia/hypoplasia of the macula 60 33 occasional (7.5%) Occasional (29-5%) HP:0008059
41 generalized hyperpigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007440
42 macular dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007754
43 abnormality of the cerebellar vermis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002334
44 subcortical cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0012157
45 cerebral cortical hemiatrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100308
46 low-set ears 33 HP:0000369
47 hepatomegaly 33 HP:0002240
48 hypertonia 60 Occasional (29-5%)
49 ascites 33 HP:0001541
50 abnormality of movement 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
epicanthal folds
upslanting palpebral fissures

Head And Neck Neck:
short neck
skin folds around the neck

Abdomen External Features:
ascites
omphalocele (in some patients)

Genitourinary Kidneys:
cystic renal dysplasia
enlarged kidneys

Head And Neck Nose:
small nose

Skin Nails Hair Skin:
thick skin
redundant connective tissue

Growth Other:
swollen globular body

Respiratory Lung:
hypoplastic lungs

Abdomen Gastrointestinal:
bowel hypoplasia (less common)
bowel atresia (less common)

Prenatal Manifestations Placenta And Umbilical Cord:
increased placental weight

Head And Neck Ears:
low-set ears
dysplastic ears
abnormally folded ears

Abdomen Liver:
hepatomegaly
hepatic fibrosis
perivascular nerve fiber proliferation
periportal and perivenular fibrosis

Skeletal Limbs:
micromelia

Head And Neck Head:
acrocephaly

Growth Weight:
increased birth weight

Skeletal Skull:
craniosynostosis (in some patients)

Head And Neck Face:
bloated face

Abdomen Pancreas:
pancreatic fibrosis (in some patients)

Skeletal Hands:
polydactyly (in some patients)

Clinical features from OMIM:

200995 256710

UMLS symptoms related to Acrocephalopolydactylous Dysplasia:


seizures, ataxia, thick skin, muscle spasticity

Drugs & Therapeutics for Acrocephalopolydactylous Dysplasia

Search Clinical Trials , NIH Clinical Center for Acrocephalopolydactylous Dysplasia

Genetic Tests for Acrocephalopolydactylous Dysplasia

Anatomical Context for Acrocephalopolydactylous Dysplasia

MalaCards organs/tissues related to Acrocephalopolydactylous Dysplasia:

42
Skin, Kidney, Bone, Lung, Colon, Eye, Small Intestine

Publications for Acrocephalopolydactylous Dysplasia

Articles related to Acrocephalopolydactylous Dysplasia:

(show all 14)
# Title Authors Year
1
Elejalde syndrome (ES). ( 25780981 )
2015
2
Sibs with acrocephalopolydactylous dysplasia (Elejalde syndrome) in a non-consanguineous family. ( 22413886 )
2012
3
The expanding spectrum of Elejalde syndrome: overlap with other disorders of overgrowth. ( 21164339 )
2011
4
Elejalde syndrome: clinical and histopathological findings in an Egyptian male. ( 17710870 )
2007
5
Elejalde syndrome--a case report. ( 16969863 )
2006
6
Elejalde syndrome: report of a case and review of the literature. ( 15283796 )
2004
7
Comment on Elejalde syndrome and relationship with Griscelli syndrome. ( 12522801 )
2003
8
12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease). ( 11170073 )
2001
9
An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). ( 10993506 )
2000
10
Elejalde syndrome revisited. ( 10632217 )
2000
11
Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. ( 10052404 )
1999
12
Elejalde syndrome: a case report. ( 9098491 )
1997
13
An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia). ( 8055141 )
1994
14
Acrocephalopolydactylous dysplasia. ( 890100 )
1977

Variations for Acrocephalopolydactylous Dysplasia

Expression for Acrocephalopolydactylous Dysplasia

Search GEO for disease gene expression data for Acrocephalopolydactylous Dysplasia.

Pathways for Acrocephalopolydactylous Dysplasia

GO Terms for Acrocephalopolydactylous Dysplasia

Sources for Acrocephalopolydactylous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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