Congenital Limb Malformations (Subscribe)  

Polysyndactyly, facial and brain abnormalities and imperforate anus. NORD Database
Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder that may be apparent at birth (congenital). The symptoms and findings associated with the disorder may vary greatly in range and severity from case to case. However, in many individuals with Pallister-Hall...

Acrocephalosyndactyly (ACS) disorder type V. acrocephaly, and webbing or fusion of certain fingers and/or toes (syndactyly). NORD Database
Synonyms of Pfeiffer Syndrome Type I * Acrocephalosyndactyly Type I, Subtype I * Acrocephalosyndactyly V (ACS5 or ACS V), Subtype I * Classic Type...

Cerebellar malformation + Polydactyly. NORD Database
Synonyms of Joubert Syndrome * Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation * Cerebellar Vermis Aplasia * Cerebellarparenchymal Disorder IV * Cerebelloparenchymal Disorder IV Familial * Chorireninal Coloboma-Joubert Syndrome ...

Wheeless' Textbook of Orthopaedics
- a development defect of the proximal femur recongnizable at birth;
- 3rd most common longitudinal deficiency of lower extremity;
- abnormality ranges from hypoplasia of entire femur to complete ...

growth retardation and delayed bone age; mental retardation; distinctive abnormalities of the head and face (craniofacial dysmorphism), including widely spaced eyes (hypertelorism), a broad nasal bridge, and an abnormally large or "beak-shaped" nose; abnormally broad thumbs and great toes (halluces); and/or breathing and swallowing difficulties. NORD Database
Synonyms of Rubinstein Taybi...

craniosynostosis, causing the top of the head to appear pointed (acrocephaly), and/or webbing or fusion (syndactyly) of certain fingers or toes (digits). aka acrocephalosyndactyly type III. partial fusion of soft tissues (cutaneous syndactyly) of certain fingers and toes (digits); unusually short digits (brachydactyly); and broad great toes. NORD Database
Synonyms of...

aka ACPS III Craniosynostosis and polysyndactyly. NORD Database
Synonyms of Sakati Syndrome
* ACPS III
* ACPS with Leg Hypoplasia
* Acrocephalopolysyndactyly Type III
* Sakati-Nyhan Syndrome
Sakati Syndrome belongs to a group of rare genetic disorders known as...

cardiac malformations, mild to moderate mental retardation, cleft palate, and polydactyly. NORD Database
Synonyms of Simpson Dysmorphia Syndrome
* Bulldog Syndrome
* DGSX Golabi-Rosen Syndrome, Included
* Dysplasia Gigantism Syndrome, X-Linked
* SDYS
* SGB Syndrome
...

Craniosynostosis and polysundactyly. May be one of the ACPS group of syndromes. NORD database.
Synonyms of Summitt Syndrome
* Summitt's Acrocephalosyndactyly
Summitt syndrome is an extremely rare genetic disorder characterized by malformations of the head, abnormalities of the hands and/or feet, and obesity. The syndrome is inherited as...

Multiple congenital defects including polydactyly. NORD Database
Synonyms of Trisomy 13 Syndrome
* Chromosome 13, Trisomy 13 Complete
* Complete Trisomy 13 Syndrome
* D Trisomy Syndrome
* Patau Syndrome

Malformations of the hands and feet are also often present, including overlapped, flexed fingers; webbing of the second and third toes; and a deformity in which the heels are turned inward and the soles are flexed (clubfeet [talipes equinovarus]). Infants with trisomy 18 syndrome may also have a small pelvis...

(V) = vertebral abnormalities (A) = anal atresia (C) = cardiac (heart) defects (T) = tracheoesophageal fistula (E) = esophageal atresia (R) = renal (kidney) abnormalities (L) = limb abnormalities NORD Database
Synonyms of VACTERL Association
* VACTERLS association
* VATER Association
* VATERS association