Trichorhinophalangeal syndrome type II

Also known as: chromosome 8q24.1 deletion syndrome, Giedion-Langer syndrome, Langer-Giedion syndrome, LGS, tricho-rhino-phalangeal syndrome type II, trichorhinophalangeal syndrome with exostosis, TRPS II, TRPS2

Definition

Genetics Home Reference

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.

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Orphanet

Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

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Symptoms

Medical Term Other Names Description
Osteochondroma Osteocartilaginous exostoses A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.
Neoplasm Oncological abnormality, Neoplasia, Oncology, Tumor, Tumour [more] An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
Thick eyebrow Dense eyebrow, Hypertrichosis of the eyebrow, Prominent eyebrows, Heavy eyebrows, Bushy eyebrows [more] Increased density/number and/or increased diameter of eyebrow hairs.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Thin upper lip vermilion Thin vermilion border of upper lip, Thin upper lips, Thin red part of the upper lip, Decreased volume of upper lip vermilion, Decreased volume of upper lip, Decreased height of upper lip vermilion [more] Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Abnormality of the skin Skin abnormality, dermopathy, dermatopathy [more] An abnormality of the skin.
Sparse scalp hair sparse-absent scalp hair, Scalp hair, thinning, Thin scalp hair, Sparse, thin scalp hair [more] Decreased number of head hairs per unit area.
Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Osteopenia Generalized osteopenia Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
Hyperhidrosis Profuse sweating, Excessive sweating, Sweating, Increased sweating, Sweating profusely, Diaphoresis [more] Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Wide nose Increased nasal width, Increased nasal breadth, Increased width of nose, Broad nose, Increased breadth of nose [more] Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Cutis laxa Chalazoderma, Elastolysis, Cutaneous laxity, Hypoelastic skin, Loose skin, Hanging skin, Inelastic skin, Dermatomegaly, Lax skin, Generalized elastolysis, Skin laxity, Dermatochalasia [more] Wrinkled, redundant, inelastic and sagging skin.
Alopecia of scalp Baldness, Missing scalp hair, Absence of scalp hair, Scalp hair loss, Pathologic hair loss from scalp [more]
Oligodontia Missing more than six teeth, Number of teeth decreased by more than six, Failure of development of more than six teeth, Partial anodontia [more] A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.
Hip dysplasia Congenital hip dysplasia The presence of developmental dysplasia of the hip.
Alopecia Hair loss Loss of hair from the head or body.
Microdontia Hypotrophic tooth, Small tooth, Decreased width of tooth, Small teeth, Decreased size of tooth [more] Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Multiple exostoses Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Exostoses An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Reduced bone mineral density Decreased bone mineral density Z score, Decreased bone mineral density A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.

Other Classifiers and IDs

  • OrphaNet: ORPHA:502
  • MedDRA: 10050638
  • MeSH: C536555
  • UMLS: C2931237
  • OMIM: 150230