Tricho-rhino-phalangeal syndrome.
The major characteristics of tricho-rhino-phalangeal syndrome (TRPS) include shortened and deviated digits, a typical facies with a pear-shaped nose, a long philtrum and slow-growing, fine, sparse hair. Cone-shaped digital epiphyses are seen on x-ray. A few patients with TRPS are mentally retarded. Associated endocrine abnormalities have been reported. Autosomal dominant and recessive patterns of inheritance have been described with most cases showing a dominant mode of inheritance.
D000328:Adult; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008663:Metacarpus / Q000002:abnormalities; D008684:Metatarsus / Q000002:abnormalities; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*