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]

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]

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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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]

Also includes hypoplastic nails and short metatarsal and metacarpal joints. Mental retardation is not associated with this medical condition. Carrington PR, Chen H, Altick JA: Trichorhinopharyngeal syndrome, type 1. [accessanesthesiology.mhmedical.com]

eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 30%-79% of people have these symptoms Avascular necrosis of the capital femoral [rarediseases.info.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]

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]

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]

0000347 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Short distal phalanx of finger Short outermost finger bone 0009882 Short metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short stature Decreased [rarediseases.info.nih.gov]

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]

Mental retardation, neonatal hypotonia, delayed speech development, hearing loss. Recurrent respiratory infections. Prune-belly sequence. Ureteral reflux, persistent cloaca, congenital nephrotic syndrome. Aplasia of epiglottis may be present. [accessanesthesiology.mhmedical.com]

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