Biomaterial Database

[The tricho-rhino-phalangeal syndrom. Four cases in 3 generations (author's transl)]. 1980

M B Ranke, and H C Heitkamp

The tricho-rhino-phalangeal syndrome is a rare anomaly characterized by typical cranio-facial dysmorphic signs and anomalies of hair and phalanges. Frequently associated are Perthes-like hip changes, low birth weight and short stature. Autosomal-dominant inheritance is prevalent.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009666	Nose	A part of the upper respiratory tract. It contains the organ of SMELL. The term includes the external nose, the nasal cavity, and the PARANASAL SINUSES.	External Nose,External Noses,Nose, External,Noses,Noses, External
D001724	Birth Weight	The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.	Birthweight,Birth Weights,Birthweights,Weight, Birth,Weights, Birth
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
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