Create issue ticket

93 Possible Causes for Cone-Shaped Epiphyses of Middle Phalanges, Mutations in the TRPS1 Gene, Short Stature - 5th-10th Percentile

  • Trichorhinophalangeal Syndrome Type 1 and 3

    epiphyses of the middle phalanges of the hand Cone-shaped end part of the middle hand bones 0010259 Coxa magna 0003279 Delayed skeletal maturation Delayed bone maturation[rarediseases.info.nih.gov] TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12. TRPS3 is inherited in an autosomal dominant manner.[diseaseinfosearch.org] At four years old, her weight was in 5th, height in 10th, and head circumference in 75th percentiles.[ijponline.biomedcentral.com]

  • Trichorhinophalangeal Syndrome

    The radiographic findings include cone-shaped epiphyses of the middle phalanges with shortened metacarpals. Genetic findings include deletion of chromosome band 8q24.12.[ncbi.nlm.nih.gov] Mutation analysis showed a missense mutation (R952C) in exon 7 of the TRPS1 gene.[ncbi.nlm.nih.gov] epiphyses of the middle phalanges of some fingers and toes. [2] : 578 [3] It has been associated with TRPS1. [4] See also [ edit ] Skin lesion List of cutaneous conditions[en.wikipedia.org]

    Missing: Short Stature - 5th-10th Percentile
  • Trichorhinophalangeal Dysplasia Type 1

    Radiographic features include: cone-shaped epiphyses of the middle phalanges of the hands and feet, present in almost all individuals with TRPS and detectable typically after[ijponline.biomedcentral.com] Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. Br J Dermatol. 163 , 416-9.[e-kjgm.org] This syndrome is caused by autosomal dominant mutations in the TRPS1 gene.[nature.com]

  • Carrington Syndrome

    Radiologic findings include cone-shaped epiphyses mainly at the bases of the middle phalanges of the hands and feet. 2 So far, in the dermatologic literature, a total of 29[jamanetwork.com] ” bones in the fingers (middle phalanges) and toes (epiphyseal coning).[rarediseases.org] New genetic approaches, including mutation analysis, now allow identification of carriers of the TRPS1 gene mutations.[jamanetwork.com]

    Missing: Short Stature - 5th-10th Percentile
  • Distal Symphalangism

    epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones.[ncbi.nlm.nih.gov] epiphyses of middle phalanges of fingers , and absence of scaphoid, trapezium, trapezoid, and pisiform bones .[wikigenes.org] Coxa valga Coxa vara Dislocated hip Cone shaped epiphyses Fibulae a-/hypoplastic/under-/unossified Cone-shaped epiphyses of proximal phalanges Cone-shaped epiphyses of middle[head-face-med.biomedcentral.com]

    Missing: Mutations in the TRPS1 Gene Short Stature - 5th-10th Percentile
  • Brachydactyly

    Physical therapy and/or plastic surgery may be indicated if the condition affects hand function. 0010026 Cone-shaped epiphyses of the middle phalanges of the hand Cone-shaped[rarediseases.info.nih.gov] Mutations in the trichorhinophalangeal syndrome I gene ( TRPS1 ), localized to 8q23.3, have been found in 88% of cases of TRSP I and TRSP III [ 100 ].[ojrd.biomedcentral.com] cone shaped deformities of the affected epiphyses.[jmg.bmj.com]

    Missing: Short Stature - 5th-10th Percentile
  • Skeletal Dysplasia

    Short metacarpals, especially the fourth and fifth; cone-shaped epiphyses. Figure 8. Trichorhinophalangeal syndrome II.[intechopen.com] Finally, Merjaneh et al. [ 97 ] report a TRPS1 a family with a novel nonsense mutation in the TRPS1 gene.[intechopen.com] Metaphyseal hooking at the proximal ends of several of the middle phalanges. Perthes-like changes in capital femoral epiphysis. Figure 9.[intechopen.com]

    Missing: Short Stature - 5th-10th Percentile
  • HAIR-AN Syndrome

    ” bones in the fingers (middle phalanges) and toes (epiphyseal coning).[rarediseases.org] Molecular genetic testing can reveal mutations of the TRPS1 gene.[rarediseases.org] […] affected individuals exhibit abnormalities of the fingers and/or toes including permanent fixation of the fifth fingers in a bent position (clinodactyly) and/or abnormal “cone-shaped[rarediseases.org]

    Missing: Short Stature - 5th-10th Percentile
  • Dyschondrosteosis-Nephritis Syndrome

    Short metacarpals, especially the fourth and fifth; cone-shaped epiphyses. Figure 8. Trichorhinophalangeal syndrome II.[intechopen.com] Finally, Merjaneh et al. [ 97 ] report a TRPS1 a family with a novel nonsense mutation in the TRPS1 gene.[intechopen.com] Metaphyseal hooking at the proximal ends of several of the middle phalanges. Perthes-like changes in capital femoral epiphysis. Figure 9.[intechopen.com]

    Missing: Short Stature - 5th-10th Percentile
  • Growth Hormone Deficiency

    Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C T (p. Gln400X) and c.2086C T (p.[ncbi.nlm.nih.gov] Upon genetic analysis of the TRPS1 gene, two mutations were found.[ncbi.nlm.nih.gov] TRPSI is caused by mutations in the TRPS1 gene. Herein, we report two Korean cases of TRPSI.[ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile