Very rare X-linked syndrome with radial aplasia, anogenital anomalies, and sometimes hydrocephalus.
Radial Aplasia and Anogenital Anomalies.
Very rare. Limited case reports.
X-linked genetic inheritance.
Radial aplasia with normal legs, hydrocephalus, hypospadias, imperforate anus.
Perioperative positioning must prevent extrinsic compression of upper limb arteries. Avoid radial artery catheterization. Evaluate neurological status.
There are no known specific implications for this condition.
Other conditions to be considered
Radial aplasia can be observed in many syndromes, including the following:
Wilms Tumor Radial Bilateral Aplasia Nephroblastoma: Metacarpal anomalies, radius absent or abnormal lower limb deficiency, terminal hypoplasia fingers, and chromosomal rearrangement.
Baller-Gerold Syndrome: Autosomal recessive, characterized by short stature, absent or hypoplastic radii, craniosynostosis, congenital cardiopathy, and various other anomalies such as turribrachycephaly, low-set, posteriorly rotated ears with conductive hearing loss; down-slanting palpebral fissures and epicanthal folds. Other features include hypertelorism; microstomia; perineal fistula; anteriorly placed anus; imperforate anus; renal anomalies; rectovaginal fistula; vertebral anomalies; fused carpal bones; mental retardation; absent or hypoplastic thumbs; absent carpals; metacarpals; and phalanges.
☞TAR Syndrome: An acronym that stands for Thrombocytopenia, Absent Radius. It is a rare condition most severe in the neonatal period and early infancy. TAR is associated with thrombocytopenia and bilateral radial aplasia and presents with abnormalities in skeletal, gastrointestinal, hematologic, and cardiac systems. Pancytopenia similar to Fanconi. The major cause of mortality is hemorrhage. The incidence of hemorrhage is limited to the first 14 months of life.
☞VACTERYL Syndrome: Rare association of neurological lesions, lung and facial anomalies combined in a classical polymalformative syndrome.
☞SC Phocomelia Syndrome: Very rare, autosomal recessive, severe, polymalformative disease characterized by cranial and maxillofacial deformities, limb anomalies, and intellectual disability.
et al: X-linked phenotype of absent radius and anogenital anomalies. Am J Med Genet
PV: Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. Indian J Plast Surg
et al: Localization of a novel t(1;7) translocation associated with Wilms’ tumor predisposition and skeletal abnormalities. Genes Chromosomes Cancer