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684 Possible Causes for Birth Length Normal, Cone-Shaped Epiphyses of Middle Phalanges, 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] Her birth weight was 3050 g ( th centile), length 49 cm ( th centile) and head circumference 33 cm ( th centile).[molecularcytogenetics.biomedcentral.com] At four years old, her weight was in 5th, height in 10th, and head circumference in 75th percentiles.[ijponline.biomedcentral.com]

  • 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] Birth parameters showed only length below the normal range (birth weight: 2930 g, 1.5 standard deviation (SD); birth length: 46 cm, 3 SD and OFC: 34 cm, 1 SD).[nature.com] birth length Mild growth deficiency Face Prominent, long vertical groove in the middle area above the upper lip (philtrum) Very small lower jaw (micrognathia) Horizontal groove[nfed.org]

  • 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] birth length Mild growth deficiency Face Prominent, long vertical groove in the middle area above the upper lip (philtrum) Very small lower jaw (micrognathia) Horizontal groove[nfed.org] 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
  • Growth Failure

    Figure 2: Minimal cupping at the phalangeal basis, short phalanges, short and broad metacarpal and metatarsal bones, cone-shaped epiphysis and metaphyseal cupping at middle[advbiores.net] birth length.[academic.oup.com] Birth weight and length are strong predictors of subsequent growth [6], but do not always reflect a child’s genetic potential.[cps.ca]

    Missing: Short Stature - 5th-10th Percentile
  • Coffin-Lowry Syndrome

    Two unrelated patients with Coffin-Lowry syndrome are described. The main characteristics of a typical face, thick hands with tapering fingers and a transverse hypothenar crease, general hypotonia with extensible joints made diagnosis possible before the age of 6 months. A persistent large anterior fontanel[…][ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Spondyloepiphyseal Dysplasia Type Cantú

    birth length short stature, disproportionate short limb Head And Neck Mouth: large mouth thick lower lip Skeletal Pelvis: hypoplastic iliac wings Growth Other: growth retardation[malacards.org] This type of dwarfism is characterized by a normal spinal column length relative to the femur bone.[en.wikipedia.org] […] short feet brachymetatarsals Skeletal Spine: cuboid-shaped vertebral bodies mild platyspondyly lack of lumbar lordosis anterior scalloping vertebral bodies Growth Height: normal[malacards.org]

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

    Abstract In long-standing nephropathic cystinosis complications are observed in various organs. Distal myopathy was first described in detail in 1994. The prevalence was calculated to be 24%. We studied seven patients with nephropathic cystinosis with neurophysiological techniques. Only two patients complained of a[…][ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    […] epiphysis Increased number of teeth Exostoses Sparse lateral eyebrow Long upper lip High forehead Accelerated bone age after puberty Pear-shaped nose Cone-shaped epiphyses[mendelian.co] Although birth length is usually normal, final adult height approaches the lower limit of normal.[egl-eurofins.com] Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals.[rasopathiesnet.org]

    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] 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] Both patients had additional clinical manifestations such as narrowing of the zygomatic arch, dental pulp stone, microdontia of a mandibular permanent central incisor, cone-shaped[ncbi.nlm.nih.gov]

    Missing: Birth Length Normal 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] Patients show a retarded skeletal age until puberty, and then an accelerated skeletal age, while the mean length at birth is normal [ 100 ].[ojrd.biomedcentral.com] cone shaped deformities of the affected epiphyses.[jmg.bmj.com]

    Missing: Short Stature - 5th-10th Percentile

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