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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.
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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
Plastic Surgery
Elite in Acrocephalopolydactyly
Plastic Surgery

Children's Surgical Associates Ltd

3401 Civic Ctr Blvd, 
Philadelphia, PA 
Languages Spoken:
English

Scott Bartlett is a Plastic Surgeon in Philadelphia, Pennsylvania. Dr. Bartlett and is rated as an Elite provider by MediFind in the treatment of Acrocephalopolydactyly. His top areas of expertise are Craniosynostosis, Syndactyly, Apert Syndrome, Osteotomy, and Bone Graft.

Elite in Acrocephalopolydactyly
Elite in Acrocephalopolydactyly
Campinas, SP, BR 

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

 
 
 
 
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Derek M. Steinbacher
Distinguished in Acrocephalopolydactyly
Plastic Surgery | Oral and Maxillofacial Surgery
Distinguished in Acrocephalopolydactyly
Plastic Surgery | Oral and Maxillofacial Surgery

Dr. Derek Steinbacher

20 York St, 
New Haven, CT 
Languages Spoken:
English
Accepting New Patients

Derek Steinbacher is a Plastic Surgeon and an Oral and Maxillofacial Surgeon in New Haven, Connecticut. Dr. Steinbacher and is rated as a Distinguished provider by MediFind in the treatment of Acrocephalopolydactyly. His top areas of expertise are Metopic Ridge, Craniosynostosis, Crouzon Syndrome, Osteotomy, and Bone Graft. Dr. Steinbacher 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...

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