Acrocephalopolydactyly Overview

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?
Elite in Acrocephalopolydactyly
Dr. Scott P. Bartlett
Plastic Surgery
Elite in Acrocephalopolydactyly
Dr. Scott P. Bartlett
Plastic Surgery

Penn Plastic Surgery Perelman

3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
Philadelphia, PA 
800-789-7366
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Scott Bartlett is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Bartlett is rated as an Elite provider by MediFind in the treatment of Acrocephalopolydactyly. His top areas of expertise are Craniosynostosis, Pfeiffer Syndrome, Saethre-Chotzen Syndrome, Osteotomy, and Bone Graft. Dr. Bartlett is currently accepting new patients.

Elite in Acrocephalopolydactyly
Cassio E. Amaral-Raposo
Elite in Acrocephalopolydactyly
Cassio E. Amaral-Raposo
Campinas, SP, BR 

Cassio Amaral-Raposo practices in Campinas, Brazil. Amaral-Raposo is rated as an Elite expert by MediFind in the treatment of Acrocephalopolydactyly. Their top areas of expertise are Acromicric Dysplasia, Syndactyly, Pfeiffer Syndrome, Osteotomy, and Bone Graft.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Acrocephalopolydactyly
Dr. Jesse Taylor
Plastic Surgery
Elite in Acrocephalopolydactyly
Dr. Jesse Taylor
Plastic Surgery
3400 Spruce Street, 4 Silverstein, 
Philadelphia, PA 
215-662-7300
Languages Spoken:
English
See accepted insurances

Jesse Taylor is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Taylor is rated as an Elite provider by MediFind in the treatment of Acrocephalopolydactyly. His top areas of expertise are Craniosynostosis, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, Osteotomy, and Endoscopy.

View All Doctors
What are the latest Acrocephalopolydactyly Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
Enrollment Status: Recruiting
Publish Date: September 06, 2023
Intervention Type: Diagnostic test

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
View All Clinical Trials