Presentation
Entire Body System
- Short Finger
Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones. [checkorphan.org]
The condition is characterized by scoliosis, brachydactyly ( unusually short fingers and toes), spina bifida occulta, and 5 ... ... [familydiagnosis.com]
The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). [rarediseases.info.nih.gov]
- Dysostosis
Homepage Rare diseases Search Search for a rare disease Acrodysplasia scoliosis Disease definition Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals [orpha.net]
[…] syndrome Say–Barber–Miller syndrome Say–Carpenter–syndrome Say–Field–Coldwell syndrome Say–Meyer syndrome Sc Sca • Sch • Sci–Scl • Sco–Scr Sca Scabies Scab Face SCAD deficiency Scalp defects postaxial polydactyly Scalp–ear–nipple syndrome Scapuloiliac dysostosis [sosu.us]
Type 2F Alcohol fetopathy facial abnormalities and central MCDCA puberty Familial spastic paraplegia Cryptorchidism neuronal Type 2F Charcot-Marie- nervous system dysfunction concentric annular Macular Spastic paraplegia with precocious Craniofacial dysostosis [yumpu.com]
- Difficulty Walking
walking Rare - less than 30% cases Other less frequent symptoms Patients with Scoliosis and Abnormality of the skeletal system. may also develop some of the following symptoms: Rare Symptoms - Less than 30% cases Distal sensory impairment Pes cavus Pectus [mendelian.co]
- Broad Great Toe
great toe macrocranium Short-chain acyl-CoA dehydrogenase deficiency Short limb dwarf lethal Colavita–Kozlowski type Short limb dwarf lethal Mcalister–Crane type Short limb dwarf oedema iris coloboma Short limb dwarfism Al Gazali type Short limbs abnormal [sosu.us]
- Multiple Congenital Anomalies
congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic [sosu.us]
Musculoskeletal
- Brachydactyly
« Prata-Liberal-Goncalves syndrome Disease Articles Brachydactyly : Summary : Brachydactyly is a general term characterized by disproportionately short fingers and toes. [familydiagnosis.com]
Note that Brachydactyly - scoliosis - carpal fusion symptoms usually refers to various symptoms known to a patient, but the phrase Brachydactyly - scoliosis - carpal fusion signs may refer to those signs only noticable by a doctor. [checkorphan.org]
MalaCards based summary : Acrodysplasia Scoliosis, is also known as brachydactyly-scoliosis-carpal fusion syndrome. Affiliated tissues include bone, and related phenotypes are scoliosis and brachydactyly [malacards.org]
Homepage Rare diseases Search Search for a rare disease Acrodysplasia scoliosis Disease definition Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals [orpha.net]