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Disease Profile

Acrocephalopolydactyly

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Elejalde syndrome; Acrocephalopolydactylous dysplasia

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal renal morphology
Abnormally shaped kidney
Kidney malformation
Kidney structure issue
Structural kidney abnormalities

[ more ]

0012210
Abnormality of the mouth
Abnormal mouth
0000153
Brachydactyly
Short fingers or toes
0001156
Cystic hygroma
0000476
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

0000457
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Genu recurvatum
Back knee
Knee hyperextension

[ more ]

0002816
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Limb undergrowth
limb shortening
Short limb
Short limbs

[ more ]

0009826
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Oxycephaly
0000263
Premature closure of fontanelles
0005458
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Short long bone
Long bone shortening
0003026
Short neck
Decreased length of neck
0000470
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Thoracic hypoplasia
Small chest
Small thorax

[ more ]

0005257
30%-79% of people have these symptoms
Omphalocele
0001539
Pancreatic fibrosis
0100732
Percent of people who have these symptoms is not available through HPO
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Ascites
Accumulation of fluid in the abdomen
0001541
Autosomal recessive inheritance
0000007
Craniosynostosis
0001363
Cystic renal dysplasia
0000800
Enlarged kidney
Large kidneys
0000105
Extrapulmonary sequestrum
0006544
Hepatic fibrosis
0001395
Hepatomegaly
Enlarged liver
0002240
Hypoplasia of the small intestine
Underdeveloped small intestine
0004790
Hypoplastic colon
0005210
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Micromelia
Smaller or shorter than typical limbs
0002983
Polysplenia
Multiple small spleens
0001748
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Thickened skin
Thick skin
0001072
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Acrocephalopolydactyly. Click on the link to view a sample search on this topic.