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268 Possible Causes for Aplasia or Hypoplasia of the Nails

  • Nail-Patella Syndrome

    Abstract Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns[ncbi.nlm.nih.gov] […] by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.[orpha.net] The classical description is of a tetrad of nail dysplasia, patellar aplasia-hypoplasia, elbow joint dysplasia, and iliac horns.[boneandspine.com]

  • Sorsby Syndrome

    The thumbs were bifid, there was aplasia or hypoplasia of the nails, and partial syndactyly between digits 3 and 4 on the left hand.[omim.org] Sorsby syndrome An autosomal dominant condition characterised by bilateral macular coloboma, apical dystrophy of the hands and feet, bifid thumbs, aplasia or hypoplasia of[medical-dictionary.thefreedictionary.com] nails, and which may be accompanied by hearing less, uterine anomalies and a single kidney.[medical-dictionary.thefreedictionary.com]

  • Patellar Dislocation

    It is well known that patella aplasia-hypoplasia occurs in nail-patella syndrome, small patella syndrome, and several other syndromes.[ncbi.nlm.nih.gov] Patella aplasia-hypoplasia is a rare condition characterized by the congenital absence or marked reduction of the patellar bone.[ncbi.nlm.nih.gov] However, isolated patella aplasia-hypoplasia without associated clinical or radiologic anomalies, first described by Kutz in 1949, is an extremely rare condition.[ncbi.nlm.nih.gov]

  • BOD Syndrome

    They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia[ncbi.nlm.nih.gov] They had shortness and clinodactyly of the Sth fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and Sth fingers, hypoplasia[journals.lww.com] Similarities: isolated aplasia or hypoplasia of the patella 4. Differences: no nail changes, no elbow changes, no renal involvement, no ocular involvement 3.[doi.org]

  • Sclerodactyly

    32 hallmark (90%) HP:0001792 4 aplasia/hypoplasia of the skin 32 hallmark (90%) HP:0008065 5 sclerodactyly 32 hallmark (90%) HP:0011838 6 lack of skin elasticity 32 hallmark[malacards.org] 32 (show all 6) # Description HPO Frequency HPO Source Accession 1 dry skin 32 hallmark (90%) HP:0000958 2 palmoplantar keratoderma 32 hallmark (90%) HP:0000982 3 small nail[malacards.org]

  • Kyphoscoliosis

    […] pits Retinal hemorrhage Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Thick nail Coarse hair Ridged nail[mendelian.co] […] disorder Biconcave vertebral bodies Homocystinuria Increased bone mineral density Eosinophilia Generalized osteoporosis Generalized osteosclerosis Hyperpigmented streaks Nail[mendelian.co]

  • Primary Immune Deficiency Disorder

    aplasia Isolated optic neuritis Isolated osteopoikilosis Isolated oxidative phosphorylation complex disorder Isolated oxycephaly Isolated partial cerebellar vermis agenesis[orpha.net] […] anomaly Isolated nasal pyriform aperture hypoplasia Isolated neck extensor myopathy Isolated neonatal sclerosing cholangitis Isolated nose agenesis Isolated optic nerve hypoplasia[orpha.net] […] mitochondrial sensorineural deafness Isolated NADH-coenzyme Q reductase deficiency Isolated NADH-CoQ reductase deficiency Isolated NADH-ubiquinone reductase deficiency Isolated nail[orpha.net]

  • Congenital Dyserythropoietic Anemia

    There were multiple anomalies, including nail hypoplasia/aplasia and syndactyly of the feet (Figs. 1A and B).[journals.lww.com]

  • Coxa Valga

    Coffin-Siris syndrome 1 MedGen UID: 482831 • Concept ID: C3281201 • Disease or Syndrome Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of[ncbi.nlm.nih.gov] […] the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 2

    Hypoplasia of the skin Polyhydramnios Coxa valga Long philtrum Congestive heart failure Dilatation Hepatosplenomegaly Camptodactyly of finger Joint stiffness Smooth philtrum[mendelian.co] Talipes Ventricular hypertrophy Limb undergrowth Small nail Joint contracture of the hand Cardiomegaly Thickened skin Short long bone Splenomegaly Aortic regurgitation Bilateral[mendelian.co] Short chin Focal seizures with impairment of consciousness or awareness Clinodactyly Retrognathia Vomiting Thick eyebrow Behavioral abnormality Agenesis of corpus callosum Aplasia[mendelian.co]

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