Clinical description TRPS types 1 and 3 are variants of a single disease, type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. [orpha.net]

Several authors reported the management of TRPS short stature by growth hormone (GH) supplementation [ 9 – 11 ]. The results available to date are, however controversial. [bmcmedgenet.biomedcentral.com]

The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia. [ijponline.biomedcentral.com]

In case of poor growth and GH deficiency, a replacement therapy can be offered. Mutation analysis extended to the other family members allows identification of carriers and subsequent genetic counseling. [ijponline.biomedcentral.com]

Clinical examination found a proportionate short stature   3 SD (139 cm), sparse thin and hypo pigmented hair, thick eyebrows with lateral rarefaction, a characteristic pear-shaped nose, a long philtrum and a thin upper lip (Fig. 2a ). [bmcmedgenet.biomedcentral.com]

Affected individuals may lose most or all of their scalp hair (alopecia) at a young age, in some cases, by the second decade of life. [rarediseases.org]

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Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem [unboundmedicine.com]

Other skeletal dysplasias such as oral-facial-digital syndrome and chondroectodermal dysplasia were considered among the differentials as they can also present with alopecia, structural craniofacial abnormalities and cone-shaped epiphyses mimicking TRPS [docksci.com]

The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia. [ijponline.biomedcentral.com]

eyebrow Thin eyebrows 0045074 Thin nail Thin nails 0001816 Thin upper lip vermilion Thin upper lip 0000219 Showing of 61 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience [rarediseases.info.nih.gov]

(scoliosis) Excessive curvature of the lower back (lordosis) Pelvis Deformities in the large bone in the leg/ femur Hands Short and misshapen fingers Feet Flat foot Short toes Nails Thin Spoon shaped White spots Hair Sparse Thin Slow growing Thin eyebrows [nfed.org]

Ectodermal anomalies consist of slowly growing and sparse scalp hair, with receded medio-occipital hairline, medially thick and laterally thin eyebrows, dystrophic nails and dental anomalies, such as supernumerary teeth. [ijponline.biomedcentral.com]

The characteristic appearance of individuals with TRPS I involves thick eyebrows ; a broad nose with a rounded tip ; large ears, a long, smooth area between the nose and the upper lip (philtrum); a thin upper lip ; and small teeth that are either decreased [ghr.nlm.nih.gov]

Title Other Names: TRPS1; Giedion syndrome Categories: Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. 0011341 Macrotia Large ears 0000400 Micrognathia Little lower jaw Small jaw Small lower jaw [ more [rarediseases.info.nih.gov]

These may be manifested as: Arthritis affecting the fingers, elbow, and spine Loss of bone in the thigh A prominent breastbone Sideways curvature of the spine (scoliosis) Backward curvature of the spine (lordosis) Wing-like appearance of the shoulder [dovemed.com]

[…] physical abnormalities including abnormal prominence of the breast bone (pectus carinatum), an unusual “wing-like” shape of the shoulder blades (scapula), abnormal side-to-side curvature of the spine (scoliosis), and/or backward curvature of the spine (lordosis [rarediseases.org]

large, laterally protruding ears, a bulbous nose, an elongated upper lip and sparse scalp hair), winged scapulae, multiple cartilaginous exostoses, redundant skin and mental retardation. [medical-dictionary.thefreedictionary.com]

Additional skeletal abnormalities may also be present including thin, narrow ribs; unusual “wing-like” shoulder blades (winged scapula); webbing (syndactyly) of certain fingers and toes; and/or abnormalities of the spinal column including sideways curvature [rarediseases.org]

scapulae) Pectus carinatum (keel-shaped deformity of the chest, protrusion abnormalities of the anterior chest wall) Skeletal Delayed bone age before puberty (slow bone growth) Accelerated bone age after puberty Osteopenia (late-onset) (lower than normal [nfed.org]

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 [genecards.org]

Patient 4 The father of patients 1, 2 and 3 presented with a severe proportionate short stature (141 cm, 3 SD), diffuse alopecia with fine hair, absence of lateral eyebrows, large beaked nose and a long philtrum with thin upper lip (Fig. 2d ). [bmcmedgenet.biomedcentral.com]

hymen and vaginal stenosis. ( 24909397 ) Plaza-Benhumea L....Cuevas-Covarrubias S. 2014 12 Langer-Giedion syndrome: the evolving imaging features in hands and beyond. ( 24072254 ) Tsang W.K....Fong C.M. 2014 13 Prenatal diagnosis of Langer-Giedion Syndrome [malacards.org]

As individuals with TRPS1 age, most exhibit delayed bone age and growth retardation, resulting in short stature. [rarediseases.org]