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.
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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
Highly rated in
21
conditions

University Of Campinas

Campinas, RS, BR 

Cassio Amaral-Raposo is in Campinas, Brazil. Amaral-Raposo is rated as an Elite expert by MediFind in the treatment of Acrocephalopolydactyly. They are also highly rated in 21 other conditions, according to our data. Their top areas of expertise are Craniofrontonasal Dysplasia, Syndactyly, Acromicric Dysplasia, and Pfeiffer Syndrome.

Elite
Highly rated in
14
conditions
Plastic Surgery

Mayo Clinic

Mayo Clinic Hospital - FL

4500 San Pablo Rd S 
Jacksonville, FL 32224

Antonio Forte is a Plastic Surgeon in Jacksonville, Florida. Dr. Forte has been practicing medicine for over 16 years and is rated as an Elite doctor by MediFind in the treatment of Acrocephalopolydactyly. He is also highly rated in 14 other conditions, according to our data. His top areas of expertise are Syndactyly, Acrocephalopolydactyly, Saethre-Chotzen Syndrome, and Pfeiffer Syndrome. He is licensed to treat patients in Florida and Minnesota. Dr. Forte is currently accepting new patients.

 
 
 
 
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Distinguished
Highly rated in
20
conditions

Universidade De São Paulo

Cirurgia Craniofacial Hrac Usp, Curso De Medicina 
Bauru, SP, BR 

Nivaldo Alonso is in Bauru, Brazil. Alonso is rated as a Distinguished expert by MediFind in the treatment of Acrocephalopolydactyly. They are also highly rated in 20 other conditions, according to our data. Their top areas of expertise are Acrocephalopolydactyly, Pfeiffer Syndrome, Saethre-Chotzen Syndrome, and Apert Syndrome.

What are the latest Acrocephalopolydactyly Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
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What are the Latest Advances for Acrocephalopolydactyly?
Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
Case Report: Anisometropic Astigmatism Secondary to Unilateral Coronal Synostosis.
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Facial Dysmorphology in Saethre-Chotzen Syndrome.