ELEJAS
MCID: ACR025
MIFTS: 32

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 57 20 58 70
Elejalde Syndrome 57 73 20 58 72
Elejalde Disease 57 58 72 70
Neuroectodermal Melanolysosomal Disease 57 58 72
Acrocephalopolydactyly 20 58
Elejas 72

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
perinatal lethality


HPO:

31
acrocephalopolydactylous dysplasia:
Inheritance autosomal recessive inheritance

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


Classifications:

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


Summaries for Acrocephalopolydactylous Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221054 Definition 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.

MalaCards based summary : Acrocephalopolydactylous Dysplasia, also known as elejalde syndrome, is related to griscelli syndrome, type 1 and polydactyly, and has symptoms including seizures, ataxia and muscle spasticity. An important gene associated with Acrocephalopolydactylous Dysplasia is MYO5A (Myosin VA). Affiliated tissues include eye, bone and small intestine, and related phenotypes are intellectual disability and short neck

OMIM® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Elejalde syndrome or neuroectodermal melanolysosomal disease 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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 griscelli syndrome, type 1 11.1
2 polydactyly 10.1
3 griscelli syndrome 10.1
4 craniosynostosis 10.1
5 hypotonia 10.1
6 renal dysplasia 10.1
7 cleft palate, isolated 10.1
8 cryptorchidism, unilateral or bilateral 10.1
9 chediak-higashi syndrome 10.0
10 griscelli syndrome, type 2 10.0
11 autosomal recessive disease 10.0
12 omphalocele 10.0
13 overgrowth syndrome 10.0

Graphical network of the top 20 diseases related to Acrocephalopolydactylous Dysplasia:



Diseases related to Acrocephalopolydactylous Dysplasia

Symptoms & Phenotypes for Acrocephalopolydactylous Dysplasia

Human phenotypes related to Acrocephalopolydactylous Dysplasia:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
7 genu recurvatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002816
8 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
9 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
10 cystic hygroma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000476
11 premature graying of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002216
12 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
13 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
14 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
15 abnormality of the mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000153
16 hypopigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001010
17 thoracic hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005257
18 protuberant abdomen 58 31 hallmark (90%) Very frequent (99-80%) HP:0001538
19 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
20 limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009826
21 abnormal renal morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0012210
22 short long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003026
23 oxycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000263
24 premature closure of fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0005458
25 seizure 31 hallmark (90%) HP:0001250
26 hypotonia 31 hallmark (90%) HP:0001252
27 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
28 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
29 omphalocele 31 frequent (33%) HP:0001539
30 pancreatic fibrosis 31 frequent (33%) HP:0100732
31 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
32 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
33 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
34 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
35 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
36 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
37 muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003552
38 generalized hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007440
39 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
40 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
41 abnormality of the cerebellar vermis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002334
42 macular dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007754
43 subcortical cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012157
44 aplasia/hypoplasia of the macula 58 31 occasional (7.5%) Occasional (29-5%) HP:0008059
45 cerebral cortical hemiatrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100308
46 seizures 58 Very frequent (99-80%)
47 muscular hypotonia 58 Very frequent (99-80%)
48 hepatomegaly 31 HP:0002240
49 hypertonia 58 Occasional (29-5%)
50 abnormality of movement 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck
skin folds around the neck

Head And Neck Eyes:
hypertelorism
epicanthal folds
upslanting palpebral fissures

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

Genitourinary Kidneys:
cystic renal dysplasia
enlarged kidneys

Head And Neck Head:
acrocephaly

Growth Weight:
increased birth weight

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

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

Abdomen External Features:
ascites
omphalocele (in some patients)

Skeletal Limbs:
micromelia

Skin Nails Hair Skin:
thick skin
redundant connective tissue

Head And Neck Nose:
small nose

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 (Updated 05-Apr-2021)

UMLS symptoms related to Acrocephalopolydactylous Dysplasia:


seizures; ataxia; muscle spasticity; thick skin

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:

40
Eye, Bone, Small Intestine, Colon, Kidney

Publications for Acrocephalopolydactylous Dysplasia

Articles related to Acrocephalopolydactylous Dysplasia:

(show all 28)
# Title Authors PMID Year
1
The expanding spectrum of Elejalde syndrome: overlap with other disorders of overgrowth. 61 57
21164339 2011
2
Elejalde syndrome--a case report. 57 61
16969863 2006
3
Elejalde syndrome: a case report. 57 61
9098491 1997
4
An 18 week fetus with Elejalde syndrome (acrocephalopolydactylyous dysplasia). 57 61
8055141 1994
5
Acrocephalopolydactylous dysplasia. 61 57
890100 1977
6
The cerebro-reno-digital syndromes: a new community. 57
2015691 1991
7
Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes. 61
28761265 2017
8
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. 61
27416089 2016
9
Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. 61
26622160 2015
10
Elejalde syndrome (ES). 61
25780981 2015
11
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. 61
22711375 2012
12
Sibs with acrocephalopolydactylous dysplasia (Elejalde syndrome) in a non-consanguineous family. 61
22413886 2012
13
Silvery grey hair: clue to diagnose immunodeficiency. 61
23180914 2012
14
A role for myosin Va in cerebellar plasticity and motor learning: a possible mechanism underlying neurological disorder in myosin Va disease. 61
21508232 2011
15
Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. 61
19293680 2009
16
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
17
Elejalde syndrome: clinical and histopathological findings in an Egyptian male. 61
17710870 2007
18
Myosin Va is required for normal photoreceptor synaptic activity. 61
15316067 2004
19
Elejalde syndrome: report of a case and review of the literature. 61
15283796 2004
20
Syndromic albinism: a review of genetics and phenotypes. 61
14996378 2003
21
Comment on Elejalde syndrome and relationship with Griscelli syndrome. 61
12522801 2003
22
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans. 61
12522785 2003
23
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. 61
12058346 2002
24
12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease). 61
11170073 2001
25
[Acrocephalopolydactylous dysplasia (Elejalde syndrome)]. 61
11462357 2001
26
An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). 61
10993506 2000
27
Elejalde syndrome revisited. 61
10632217 2000
28
Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. 61
10052404 1999

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
19 FMA
20 GARD
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
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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