Trichorhinophalangeal Syndrome, Type Ii (TRPS2)

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Disease Ontology 12 DOID:4998 OMIM 56 150230 OMIM Phenotypic Series 56 PS190350 MeSH 43 D015826 NCIt 49 C75118 SNOMED-CT 67 41069008 MESH via Orphanet 44 C536555 D015826

ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C0023003 C2931237 Orphanet 58 ORPHA502 MedGen 41 C0023003 SNOMED-CT via HPO 68 103276001 108367008 111255008 111266001 123983008 12584003 15188001 162294008 17211005 195708003 197811007 197927001 201093004 21119008 228156007 229721007 237836003 240241003 246923005 247578003 249321001 263681008 266414008 271611007 275478007 275480001 29164008 298181000 299330008 343087000 367534004 373413006 398151007 398152000 398309008 399054005 399252000 400096001 43476002 44057004 48334007 51697005 52781008 60023006 62415009 64217002 69056000 80093006 8666004 87642003 91138005 95828007 more UMLS 71 C0023003

Genetics Home Reference : ²⁵ Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of the condition describes some of the areas of the body that are commonly affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal). People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Affected individuals may develop a few to several hundred osteochondromas. These bone growths typically begin in infancy to early childhood and stop forming around adolescence. Depending on the location of the osteochondromas, they can cause pain, limited range of joint movement, or damage to blood vessels or the spinal cord. Individuals with TRPS II may have reduced bone mineral density (osteopenia). Affected individuals often have slow growth before and after birth resulting in short stature. In TRPS II, the ends (epiphyses) of one or more bones in the fingers or toes are abnormally cone-shaped. Additionally, the fingernails and toenails are typically thin and abnormally formed. Children with TRPS II often have an unusually large range of joint movement (hypermobility). However, as osteochondromas begin to develop, typically starting between infancy and mid-childhood, the joints begin to stiffen, leading to decreased mobility. Individuals with TRPS II may also have a misalignment of the hip joints (hip dysplasia), which often develops in early adulthood but can occur in infancy or childhood. The characteristic appearance of individuals with TRPS II involves thick eyebrows; a broad nose with a rounded tip; a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip; and small teeth that are either decreased (oligodontia) or increased (supernumerary) in number. Almost all affected individuals have sparse scalp hair. Males are particularly affected by hair loss, with many being nearly or completely bald soon after puberty. Some children with this condition have loose skin, but the skin becomes tighter over time. Individuals with TRPS II may experience excessive sweating (hyperhidrosis). Most individuals with TRPS II have mild intellectual disability.

MalaCards based summary : Trichorhinophalangeal Syndrome, Type Ii, also known as langer-giedion syndrome, is related to cornelia de lange syndrome 4 with or without midline brain defects and trichorhinophalangeal syndrome, and has symptoms including sparse scalp hair, thin upper lip and rounded nose. An important gene associated with Trichorhinophalangeal Syndrome, Type Ii is EXT1 (Exostosin Glycosyltransferase 1). Affiliated tissues include epiphysis, skin and bone, and related phenotypes are delayed skeletal maturation and short stature

Disease Ontology : ¹² A syndrome that has material basis in mutation of the EXT1 and TRPS1 gene which results in multiple exostosis along with short stature and cone-shaped ends located in epiphysis. The disease has symptom sparse scalp hair, has symptom thin upper lip, has symptom rounded nose.

NIH Rare Diseases : ⁵² Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. The condition is characterized by intellectual deficit and numerous other abnormalities including excess folds of skin, multiple bony growths (exostoses), characteristic facial features, and cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers). The range and severity of symptoms varies greatly from person to person. TRPS2 is transmitted in an autosomal dominant manner, but many sporadic cases have been reported. TRPS2 is due to the absence of genetic material (chromosomal deletions ) on chromosome 8 , which often includes the TRPS1 gene and EXT1 gene. The size of the deletion varies from person to person.

OMIM : ⁵⁶ Trichorhinophalangeal syndrome type II (TRPS2), or Langer-Giedion syndrome (LGS), is a contiguous gene deletion syndrome characterized by cone-shaped epiphyses, multiple cartilaginous exostoses, and facial dysmorphism including bulbous nose, elongated upper lip with flat philtrum, and large protruding ears. Scalp hair is usually sparse, with thin and brittle hair shafts. Intellectual development is mildly to moderately impaired. Seizures have occasionally been reported. Other skeletal or orthopedic, urogenital, and endocrine anomalies may be present (summary by Schinzel et al., 2013). (150230)

UniProtKB/Swiss-Prot : ⁷³ Tricho-rhino-phalangeal syndrome 2: A syndrome that combines the clinical features of tricho-rhino- phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation.

Wikipedia : ⁷⁴ Langer-Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a... more...

Clinical features from OMIM:

150230

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00106-A-0	9.58	MED30
2	Decreased viability	GR00221-A-1	9.58	TNFRSF11B
3	Decreased viability	GR00221-A-2	9.58	TNFRSF11B
4	Decreased viability	GR00221-A-3	9.58	EXT1
5	Decreased viability	GR00249-S	9.58	RAD21 TM2D3 TNFRSF11B TRPS1
6	Decreased viability	GR00381-A-1	9.58	FAM83A ZHX1
7	Decreased viability	GR00386-A-1	9.58	ALX4 PTER RAD21 TRIML2
8	Decreased viability	GR00402-S-2	9.58	EXT2 FAM83A RAD21 TNFRSF11B

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