Save information for later
Sign Up

Learn About Acrocephalopolydactyly

What is the definition of Acrocephalopolydactyly?
Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare genetic (autosomal recessive) disorder characterized by excessive birth weight and facial, body, organ, limb, and finger abnormalities. Fewer than twelve cases have been identified.
What are the symptoms of Acrocephalopolydactyly?
Symptoms of acrocephalopolydactyly include excessive birth weight, a swollen, rounded body, fluid in abdomen (acites ); short arms and legs; extra fifth fingers (postaxial polydactyly) or toes; thick skin, facial, eye, and cranial defects; excessive connective tissue; pancreatic or renal fibrosis or abnormally shaped kidney; and underdeveloped intestines. Some individuals with acrocephalopolydactyly may have enlarged organs (hepatosplenomegaly); early closure of cranial sutures; abnormally wide-set eyes; upper-slanted eyes; a flat nose; malformed ears; a pointed, conical head; undescended testes; protruding umbilicus or abdominal wall defect; and cleft palate.
Not sure about your diagnosis?
Check Your Symptoms
What are the current treatments for Acrocephalopolydactyly?
Treatment for acrocephalopolydactyly involves multidisciplinary specialists and may include surgery to treat associated abnormalities.
Who are the top Acrocephalopolydactyly Local Doctors?
Experienced in Acrocephalopolydactyly
Family Medicine
Experienced in Acrocephalopolydactyly
Family Medicine

Avera Mckennan

1101 E Holly Blvd, 
Brandon, SD 
 (64.9 mi)
Languages Spoken:
English
Accepting New Patients

Richard Briggs is a Family Medicine provider in Brandon, South Dakota. Dr. Briggs and is rated as an Experienced provider by MediFind in the treatment of Acrocephalopolydactyly. His top areas of expertise are Thrombocytopenia, Gastroesophageal Reflux Disease (GERD), Chronic B-Cell Leukemia (CBCL), and Chronic Lymphocytic Leukemia (CLL). Dr. Briggs is currently accepting new patients.

Advanced in Acrocephalopolydactyly
Internal Medicine
Advanced in Acrocephalopolydactyly
Internal Medicine

Marshall County Memorial Hospital

415 9th St, 
Britton, SD 
 (202.4 mi)
Languages Spoken:
English
Accepting New Patients

Scott Purintun is an Internal Medicine provider in Britton, South Dakota. Dr. Purintun and is rated as an Advanced provider by MediFind in the treatment of Acrocephalopolydactyly. His top areas of expertise are Lung Metastases, Cytochrome P450 Oxidoreductase Deficiency, Deafness Craniofacial Syndrome, and Craniofacial-Deafness-Hand Syndrome. Dr. Purintun is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Experienced in Acrocephalopolydactyly
Family Medicine
Experienced in Acrocephalopolydactyly
Family Medicine
105 S State St, Suite 113, 
Aberdeen, SD 
 (187.0 mi)
Languages Spoken:
English
Accepting New Patients

Mark Mogen is a Family Medicine provider in Aberdeen, South Dakota. Dr. Mogen and is rated as an Experienced provider by MediFind in the treatment of Acrocephalopolydactyly. His top areas of expertise are Coronary Heart Disease, Renovascular Hypertension, Infant Hyperglycemia, and Maturity Onset Diabetes of the Young. Dr. Mogen is currently accepting new patients.

What are the latest Acrocephalopolydactyly Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age

Summary: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased...

Match to trials
Find the right clinical trials for you in under a minute
Get started