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6,139 Possible Causes for Cone-Shaped Epiphyses of Middle Phalanges, Non-Progressive, Short Stature - 5th-10th Percentile

  • Autosomal Recessive Deafness 42

    UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 42: A prelingual, non-progressive form of non-syndromic sensorineural hearing loss.[malacards.org] , and cone-shaped epiphyses of the middle and distal phalanges.[karger.com] 2, 3 : Congenital non-progressive sensorineural deafness or deficiency that is mild (26-40 dB) to profound (90 dB) Absence of systemic findings identified by clinical/physical[centogene.com]

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

    […] rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive[mendelian.co] epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones.[ncbi.nlm.nih.gov] Non-Infectious Anterior Vertebral Fusion Sclerosteosis Simpson-Golabi-Behmel Syndrome Sotos Syndrome Sotos Syndrome 1 Tatton-Brown-Rahman Syndrome Trisomy X Weaver Syndrome[familydiagnosis.com]

    Missing: 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] Thirty-four principles underlying the development, progression and management of skeletal deformity in the growing child are defined.[books.google.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

    […] systemic sclerosis (.6131) Reiter syndrome (.73) Reticulum cell sarcoma-see Non-Hodgkin's lymphoma Ankylosing spondylitis (Marie-Strumpel disease) (.8226) Ribbing's disease[bonepit.com] 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] COL9A3 Hearing loss, progressive, with optic atrophy and/or impaired glucose regulation WFS1 del Heart-hand syndrome TBX5 del dup Heart-hand syndrome, Slovenian type LMNA[uniklinik-freiburg.de]

  • Benign Adult Familial Myoclonic Epilepsy

    It is distinct from progressive myoclonic epilepsy in its adult onset and non-progressive course.[jstage.jst.go.jp] FCMTE1), is a hereditary epileptic syndrome characterized by autosomal dominant inheritance, adult-onset tremulous hand movement, myoclonus, infrequent epileptic seizure and non-progressive[ncbi.nlm.nih.gov] AB - Benign Adult Familial Myoclonic Epilepsy is an AD syndrome characterized from a non progressive cortical tremor resembling essential tremor, myoclonus and rare GTCS,[moh-it.pure.elsevier.com]

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

    Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent[ncbi.nlm.nih.gov] RESULTS: Five patients had non-progressive cerebellar ataxia (NPCA), dysarthria and short stature.[ncbi.nlm.nih.gov] Introduction Dysequilibrium syndrome (DES, OMIM 224050) is a rare autosomal recessive non-progressive cerebellar disorder characterized by ataxia, mental retardation, cerebellar[doi.org]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in[malacards.org] A syndrome of pure cerebellar hypoplasia with non-progressive cerebellar ataxia has also been described. How to differentiate congenital ataxias from hereditary ataxias?[jpgmonline.com] SCA27 Cognitive impairment FGF14 Fibroblast growth factor 14 SCA28 Ophthalmoparesis and ptosis AFG3L2 Catalytic subunit of the mitochondrial AAA protease SCA29 Early onset, non-progressive[e-jmd.org]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Autosomal Recessive Spinocerebellar Ataxia

    Genome-wide homozygosity mapping localises a gene for autosomal recessive non-progressive infantile ataxia to 20q11–q13. Hum Genet 2003 ; 113 : 293 –5.[jmg.bmj.com] Congenital ataxias display symptoms within the first year of life and are often non-progressive, while the late onset ataxias are more commonly progressive and result in patients[centogene.com] A syndrome of pure cerebellar hypoplasia with non-progressive cerebellar ataxia has also been described. How to differentiate congenital ataxias from hereditary ataxias?[jpgmonline.com]

    Missing: Cone-Shaped Epiphyses of Middle Phalanges Short Stature - 5th-10th Percentile
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome. Brain Dev 1993 ; 15 : 372 –6. Harding AE.[jmg.bmj.com] Spastic diplegic cerebral palsy If HSP symptoms begin to start in very early childhood, they may be non-progressive and resemble spastic diplegic cerebral palsy.Spasticity[explainmedicine.com] The neurologic signs usually develop as slowly progressive or non-progressive ataxia in the third decade of life. 4 Other disorders in which cerebellar ataxia is associated[synapse.koreamed.org]

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

    The neurologic signs usually develop as slowly progressive or non-progressive ataxia in the third decade of life. 4 Other disorders in which cerebellar ataxia is associated[synapse.koreamed.org] epiphyses and early fusion between the epiphyses and metaphyses of the distal and middle phalanges Short distal and middle phalanges Varying shortening of extremities relative[emedicine.medscape.com] Primary megalocornea is a congenital, non-progressive, bilateral condition in which the corneal diameter is more than 12 mm in the absence of elevated intraocular pressure[azdoc.site]

    Missing: Short Stature - 5th-10th Percentile

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