Biomaterial Database

[Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance (author's transl)]. 1975

H Frisch, and W Vormittag

Sparse, slowly growing hair, a big pear-shaped nose and deformities of the fingers are the main characteristics of the tricho-rhino-phalangeal syndrome (TRP); dwarfism is a facultative sign. The cone shaped invagination of the epiphysis into the diaphysis of the fingers and toes causes clinodactyly and brachydactyly. The typical physiognomy of the TRP leads to the suspected diagnosis which may easily be confirmed by X-ray examination. In a 13-year-old girl the classical signs of a TRP were found; several members of the family demonstrated some features of the syndrome. Dermatoglyphic examinations were performed on 9 members of the family.

UI	MeSH Term	Description	Entries
D009667	Nose Deformities, Acquired	Abnormalities of the nose acquired after birth from injury or disease.	Acquired Nasal Deformities,Nasal Deformities, Acquired,Acquired Nasal Deformity,Acquired Nose Deformities,Acquired Nose Deformity,Nasal Deformity, Acquired,Nose Deformity, Acquired
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D003878	Dermatoglyphics	The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles.	Fingerprints,Plantar Prints,Fingerprint,Plantar Print,Print, Plantar,Prints, Plantar
D004392	Dwarfism	A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.	Nanism
D005260	Female		Females
D005385	Fingers	Four or five slender jointed digits in humans and primates, attached to each HAND.	Finger
D006197	Hair	A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.	Fetal Hair,Hair, Fetal,Lanugo,Fetal Hairs,Hairs,Hairs, Fetal
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths