MCID: ACR025
MIFTS: 32

Acrocephalopolydactylous Dysplasia

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

Aliases & Classifications for Acrocephalopolydactylous Dysplasia

MalaCards integrated aliases for Acrocephalopolydactylous Dysplasia:

Name: Acrocephalopolydactylous Dysplasia 57 53 59 73
Elejalde Syndrome 57 76 53 59 75
Elejalde Disease 57 59 75 73
Neuroectodermal Melanolysosomal Disease 57 59 75
Acrocephalopolydactyly 59
Elejas 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
perinatal lethality


HPO:

32
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 : 53 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 acrocephalopolydactyly and griscelli syndrome, and has symptoms including ataxia, muscle spasticity and seizures. 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 : 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 acrocephalopolydactyly 11.9
2 griscelli syndrome 11.3
3 griscelli syndrome, type 1 10.9
4 hypotonia 9.9

Symptoms & Phenotypes for Acrocephalopolydactylous Dysplasia

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Acrocephalopolydactylous Dysplasia:

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 Very frequent (99-80%) HP:0000316
2 short neck 59 32 Very frequent (99-80%) HP:0000470
3 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
6 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
9 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
12 short nose 59 32 Very frequent (99-80%) HP:0003196
13 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
14 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
15 epicanthus 59 32 Very frequent (99-80%) HP:0000286
16 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
17 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
18 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
19 hypopigmentation of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0005599
20 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
21 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
22 aplasia/hypoplasia of the macula 59 32 occasional (7.5%) Occasional (29-5%) HP:0008059
23 generalized hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007440
24 macular dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007754
25 hypopigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001010
26 abnormality of the cerebellar vermis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002334
27 muscle stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003552
28 subcortical cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012157
29 cerebral cortical hemiatrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100308
30 oxycephaly 59 32 Very frequent (99-80%) HP:0000263
31 low-set ears 32 HP:0000369
32 hepatomegaly 32 HP:0002240
33 microtia 59 Very frequent (99-80%)
34 hypertonia 59 Occasional (29-5%)
35 ascites 32 HP:0001541
36 abnormality of movement 59 Very frequent (99-80%)
37 micromelia 32 HP:0002983
38 short long bone 59 Very frequent (99-80%)
39 cystic hygroma 59 Very frequent (99-80%)
40 hepatic fibrosis 32 HP:0001395
41 abnormality of the pinna 32 HP:0000377
42 cerebral cortical atrophy 59 Occasional (29-5%)
43 depressed nasal ridge 59 Very frequent (99-80%)
44 abnormality of the mouth 59 Very frequent (99-80%)
45 upslanted palpebral fissure 32 HP:0000582
46 brachydactyly 59 Very frequent (99-80%)
47 craniosynostosis 32 HP:0001363
48 pancreatic fibrosis 32 frequent (33%) HP:0100732
49 postaxial hand polydactyly 32 HP:0001162
50 enlarged kidney 32 HP:0000105

UMLS symptoms related to Acrocephalopolydactylous Dysplasia:


ataxia, muscle spasticity, seizures, 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:

41
Skin, Kidney, Bone, Lung, Colon, Eye, Small Intestine

Publications for Acrocephalopolydactylous Dysplasia

Articles related to Acrocephalopolydactylous Dysplasia:

# Title Authors Year
1
Sibs with acrocephalopolydactylous dysplasia (Elejalde syndrome) in a non-consanguineous family. ( 22413886 )
2012
2
Comment on Elejalde syndrome and relationship with Griscelli syndrome. ( 12522801 )
2003
3
12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease). ( 11170073 )
2001
4
An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). ( 10993506 )
2000
5
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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