Acrocephalopolydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: elejalde syndrome
Acrocephalopolydactylous dysplasia
Number of Symptoms 43
OrphanetNr: 221054
OMIM Id: 200995
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
2
 (HPO:0000105) Enlarged kidneys 30 / 7739
3
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
4
 (HPO:0000286) Epicanthus 371 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
8
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
9
 (HPO:0000263) Oxycephaly 10 / 7739
10
 (HPO:0003196) Short nose 264 / 7739
11
 (HPO:0001363) Craniosynostosis 132 / 7739
12
 (HPO:0000369) Low-set ears 372 / 7739
13
 (HPO:0000377) Abnormality of the pinna 111 / 7739
14
 (HPO:0001829) Foot polydactyly 41 / 7739
15
 (HPO:0001161) Hand polydactyly 71 / 7739
16
 (HPO:0010442) Polydactyly 69 / 7739
17
 (HPO:0002983) Micromelia 130 / 7739
18
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
19
 (HPO:0005210) Hypoplastic colon 2 / 7739
20
 (HPO:0100732) Pancreatic fibrosis variable [HPO:skoehler] 12 / 7739
21
 (HPO:0001537) Umbilical hernia 206 / 7739
22
 (HPO:0001748) Polysplenia 14 / 7739
23
 (HPO:0002240) Hepatomegaly 467 / 7739
24
 (HPO:0001541) Ascites 94 / 7739
25
 (HPO:0001539) Omphalocele variable [HPO:skoehler] 102 / 7739
26
 (HPO:0001395) Hepatic fibrosis 67 / 7739
27
 (HPO:0004790) Hypoplasia of the small intestine 1 / 7739
28
 (HPO:0001072) Thickened skin 87 / 7739
29
 (HPO:0006544) Extrapulmonary sequestrum 1 / 7739
30
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
31
 (OMIM) Bloated face 2 / 7739
32
 (OMIM) Periportal and perivenular fibrosis 1 / 7739
33
 (HPO:0003812) Phenotypic variability 129 / 7739
34
 (OMIM) Swollen globular body 1 / 7739
35
 (OMIM) Increased placental weight 1 / 7739
36
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
 (OMIM) Increased birth weight 6 / 7739
38
 (OMIM) Skin folds around the neck 1 / 7739
39
 (OMIM) Perivascular nerve fiber proliferation 1 / 7739
40
 (OMIM) Bowel atresia (less common) 1 / 7739
41
 (OMIM) Abnormally folded ears 1 / 7739
42
 (OMIM) Bowel hypoplasia (less common) 1 / 7739
43
 (OMIM) Redundant connective tissue 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM Elejalde et al. (1977) described 2 sibs, born to consanguineous parents, who showed excessive birth weight, a swollen globular body with thick skin, apparently short limbs, polydactyly, craniosynostosis with acrocephaly, omphalocele, and abnormal face. Autopsy documented abdominal organomegaly, ...