Richner-Hanhart syndrome

Rich·ner-Han·hart syndrome

see tyrosinemia, type II, under tyrosinemia.
Farlex Partner Medical Dictionary © Farlex 2012

tyrosinaemia type 2

An autosomal recessive metabolic defect (OMIM:276600) characterised by a marked elevation of tyrosine in the blood and urine, oculocutaneous manifestations (e.g., palmoplantar keratosis, painful corneal ulcers), and mental retardation.

Molecular pathology
Defects in TAT, which encodes tyrosine aminoaminotransferase, cause tyrosinaemia type 2.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.


Ernst, Swiss internist and geneticist, 1891-1973.
Hanhart syndrome - hypoplasia of the mandible with malformed and missing teeth, birdlike face, and severe deformities of the hands and forearms and sometimes of feet and legs. Synonym(s): micrognathia with peromelia
Richner-Hanhart syndrome - see under Richner


Herman, Swiss dermatologist, 1908–.
Richner-Hanhart syndrome - an autosomal disorder with several anomalies and includes mental retardation. Synonym(s): type II tyrosinemia
Medical Eponyms © Farlex 2012
References in periodicals archive ?
The absence of mental retardation and corneal dystrophy distinguished it from the Richner-Hanhart syndrome, while the absence of periorificial verrucous papules and hyperkeratosis distinguished it from the Olmsted syndrome.
Of the keratodermas with recessive inheritance, differential diagnosis was easily made both from Papillon-Lefevre syndrome in which peridontopathy always occurs and with Richner-Hanhart syndromes in which mental impairment and corneal ulcers is present.