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22 Possible Causes for Disproportionately Short Middle Phalanges, Hypoplasia of Dentate Nucleus, Multiperforated Patent Foramen Ovale

  • Wolcott-Rallison Syndrome

    nucleus NO Elbow dislocation NO Hypoplasia of the capital femoral epiphysis NO Exercise-induced muscle cramps NO Recurrent patellar dislocation NO Short middle phalanx of[playground.phenotips.org] Musculoskeletal Exercise-induced muscle fatigue NO Amelogenesis imperfecta NO Adducted thumb NO Joint laxity NO Calcaneovalgus deformity NO Dense calcifications in the cerebellar dentate[playground.phenotips.org]

    Missing: Multiperforated Patent Foramen Ovale
  • Adams-Oliver Syndrome Type 5

    @article{Papadopoulou2008AntenatalAP, title {Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome.}, author {Eleftheria Papadopoulou and Stavros Sifakis and Maria Raissaki and Ioannis Germanakis and Maria Kalmanti}, journal {American[…][semanticscholar.org]

    Missing: Disproportionately Short Middle Phalanges
  • Atrial Septal Aneurysm

    ASA is considered a risk factor for cardioembolism, especially in association with patent foramen ovale.[ncbi.nlm.nih.gov] […] atrial septal aneurysm. ( 25553942 ) Ortiz C....Ramos B. 2015 12 Transient cerebral ischemia in an elderly patient with patent foramen ovale and atrial septal aneurysm. ([malacards.org] A meticulous search for interatrial shunting (most often patent foramen ovale (PFO)) and associated cardiac diseases is important.[ncbi.nlm.nih.gov]

    Missing: Disproportionately Short Middle Phalanges Hypoplasia of Dentate Nucleus
  • Brachydactyly

    While all the small tubular bones tend to be reduced in size, there is a disproportionate shortness of the middle phalanges and the proximal 1st phalanges.[jmg.bmj.com] shortness of the 2nd to 5th middle phalanges, both proximal and distal 1st phalanges, and the 5th metacarpal (fig 2 ).[jmg.bmj.com] […] or absence of the middle phalanges of the hands and feet.[jmg.bmj.com]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Friedreich Ataxia

    The neuropathology was also similar and included hypoplasia of spinal cord and dorsal root ganglia, loss of large axons in dorsal roots, and atrophy of the dentate nucleus[ncbi.nlm.nih.gov]

    Missing: Disproportionately Short Middle Phalanges Multiperforated Patent Foramen Ovale
  • Asphyxiating Thoracic Dysplasia

    The extermities are usually disproportionately short with metaphyseal irregularities. The middle and distal phalanges have cone-shaped epiphyses in later childhood.[mirc.luriechildrens.org]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Crossed Polysyndactyly

    Eunuchoid habitus Hypoplasia of the ovary Female hypogonadism Non-obstructive azoospermia Absence of pubertal development Phenotypic abnormality Abnormality of body height[mendelian.co] nucleus Hyperreflexia Optic atrophy Anteverted nares Blindness Glaucoma Photophobia Conductive hearing impairment Short foot Short palm Decreased testosterone in males Ataxia[mendelian.co] Lissencephaly Dysdiadochokinesis Global brain atrophy Thoracic kyphosis Dysmetria Abnormality of the neck Aplasia of the inferior half of the cerebellar vermis Atrophy of the dentate[mendelian.co]

    Missing: Disproportionately Short Middle Phalanges Multiperforated Patent Foramen Ovale
  • Helsmoortel-van der Aa Syndrome

    The causative gene in SCA21, TMEM240, is highly expressed in the cerebellum, dentate gyrus, putamen and caudate nucleus.[pediatricneurologybriefs.com] The authors note that another transmembrane protein (TMEM237) is involved in Joubert syndrome-related disorders, characterized by midbrain malformation with hypoplasia of[pediatricneurologybriefs.com]

    Missing: Disproportionately Short Middle Phalanges Multiperforated Patent Foramen Ovale
  • Lenz-Majewski Syndrome

    […] webbing, hypoplastic or aplastic middle phalanges, mental retardation, and other defects.[neo-genetics.com] Lenz-Majewski Syndrome Progressive hyperostosis, characteristic facies, short trunk and limbs, disproportionately large head, sclerosis of the skull bones and vertebrae, interdigital[neo-genetics.com]

    Missing: Hypoplasia of Dentate Nucleus Multiperforated Patent Foramen Ovale
  • Autosomal Dominant Mental Retardation Type 21

    The causative gene in SCA21, TMEM240, is highly expressed in the cerebellum, dentate gyrus, putamen and caudate nucleus.[pediatricneurologybriefs.com] The authors note that another transmembrane protein (TMEM237) is involved in Joubert syndrome-related disorders, characterized by midbrain malformation with hypoplasia of[pediatricneurologybriefs.com]

    Missing: Disproportionately Short Middle Phalanges Multiperforated Patent Foramen Ovale