acrocephalopolydactyly
Findings
No curated finding names acrocephalopolydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acrocephalopolydactyly, 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.
Definition from the Mondo Disease Ontology (MONDO:0008709), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal renal morphologyHPOHP:0012210
- Very frequent (80% to 99% of cases)
- Abnormality of the headHPOHP:0000234
- Very frequent (80% to 99% of cases)
- Abnormality of the mouthHPOHP:0000153
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Cystic hygromaHPOHP:0000476
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
Show the remaining 7
- OxycephalyHPOHP:0000263
- Very frequent (80% to 99% of cases)
- Premature closure of fontanellesHPOHP:0005458
- Very frequent (80% to 99% of cases)
- Protuberant abdomenHPOHP:0001538
- Very frequent (80% to 99% of cases)
- Short long boneHPOHP:0003026
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: acrocephalopolydactyly
- Also called
- acrocephalopolydactylous dysplasiaElejalde syndrome