What is Acalvaria? Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones. Although its pathogenesis is unclear it has been explained by the theory of post-neurulation defect. It has been considered a fatal …
Abruzzo Erickson syndrome An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Synonyms CHARGE-like syndrome Cleft palate-coloboma-deafness syndrome Cleft palate-coloboma-hearing loss syndrome Incidence How common is Abruzzo Erickson syndrome? <1 / 1000000 To date, 4 cases from a single family have …
Ablepharon macrostomia syndrome An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations …
Aberfeld syndrome A rare, genetic neuromuscular disease characterized by permanent myotonia mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) chondrodysplasia (variably manifesting with short stature pectus carinatum kyphoscoliosis bowing of long bones epiphyseal, metaphyseal, and hip dysplasia Synonyms Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Dysostosis …
Aase Syndrome A very rare genetic disorder This disease characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly) cleft palate severe joint contractures Synonyms Aase-Smith I syndrome Hydrocephalus-cleft palate-joint contractures syndrome Incidence How common is Aase Syndrome <1/1000000 Less than 20 cases have been reported in the literature Inheritance Autosomal dominant Age of …
ANOTHER Syndrome A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There …
AMME syndrome A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. The AMME complex is an X-linked contiguous gene deletion syndrome with features of Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis in affected males It has been described in two families. The syndrome …