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718 Possible Causes for Nail Hypoplasia

  • Congenital Dyserythropoietic Anemia Type 1

    It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis.[genecards.org] There were multiple anomalies, including nail hypoplasia/aplasia and syndactyly of the feet (Figs. 1A and B).[journals.lww.com] , dysplastic nails, short stature and abnormal pigmentation of areas of the skin ( Fig. 15.2 ).[clinicalgate.com]

  • Hirschsprung Disease - Nail Hypoplasia - Dysmorphism

    Resources - Hirschsprung nail hypoplasia dysmorphism Hirschsprung nail hypoplasia dysmorphism: Another name for Al Gazali Hirschsprung syndrome[checkorphan.org] […] rechts Genetic nail anomaly Pfeil rechts Syndromic nail anomaly Pfeil rechts Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Externer Link Further information on[se-atlas.de] […] polydactyly heart disease Hirschsprung disease type 2 Hirschsprung disease type 3 Hirschsprung disease type d brachydactyly Hirschsprung microcephaly cleft palate Hirschsprung nail[liquisearch.com]

  • Coffin-Siris Syndrome

    Abstract Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems[ncbi.nlm.nih.gov] Abstract We report a man and his two daughters (one stillborn) with an apparently unique constellation of anomalies including fifth finger/toe terminal phalanx and nail hypoplasia[ncbi.nlm.nih.gov] Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation.[ncbi.nlm.nih.gov]

  • Cooks Syndrome

    The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands[ncbi.nlm.nih.gov] Abstract We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome.[doi.org] Hamm , Congenital brachydactyly and nail hypoplasia: clue to bone‐dependent nail formation , British Journal of Dermatology , 152 , 6 , (1339-1342) , (2005) .[doi.org]

  • Fetal Hydantoin Syndrome

    Varied malformations due to hydantoin intake during pregnancy include digit and nail hypoplasia, growth retardation, typical facial appearance, rib anomalies, abnormal palmar[ncbi.nlm.nih.gov] Limbs: Small or absent nails, hypoplasia of distal phalanges, altered palmar crease, digital thumb, dislocated hip Growth: Mild to moderate growth deficiency, usually prenatal[en.wikibooks.org] He was noted to have a depressed nasal bridge, coarse scalp hair, hirsutism, nail hypoplasia, and hypoplasia of the fifth digits bilaterally.[nature.com]

  • Anonychia - Onychodystrophy Syndrome

    […] dis-order, Onychonychia Hypoplastic Distal Phalanges is a form of Cooks syndrome , characterized by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits[wellnessadvocate.com] […] changes and the nail hypoplasia is progressive from the fifth digit to the thumb, with anonychia often present in the second and third digits, whereas the nail hypoplasia[checkorphan.org] Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, and middle finger, absence of fingernails[diki.pl]

  • Nail-Patella Syndrome

    […] 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] hypoplasia with dystrophic nails (Figure 2).[revistanefrologia.com] Homepage Rare diseases Search Search for a rare disease Nail-patella syndrome Disease definition Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized[orpha.net]

  • Hyperphosphatasia with Mental Retardation Syndrome 2

    (c) Nail hypoplasia of the second and fourth digits and absent nail of the fifth digit.[iofbonehealth.org] Underdeveloped fingernails (nail hypoplasia) may also occur.[ncbi.nlm.nih.gov] The clinical spectrum may also consist of seizures, hypotonia, nail hypoplasia, brachytelephalangy (shortened bones at the ends of fingers), distinctive facial features, and[egl-eurofins.com]

  • Patella Aplasia - Hypoplasia

    hypoplasia with dystrophic nails (Figure 2).[revistanefrologia.com] : Symptoms via clinical synopsis from OMIM: 57 Skeletal Limbs: patellar aplasia patellar hypoplasia Skin Nails Hair Skin: knee dimple Clinical features from OMIM: 168860 Human[malacards.org] It is well known that patella aplasia-hypoplasia occurs in nail-patella syndrome, small patella syndrome, and several other syndromes.[ncbi.nlm.nih.gov]

  • Fetal Warfarin Syndrome

    He also had short limbs, brachydactyly, nail hypoplasia, and calcifications in the epiphyseal regions of humeri, femora and vertebrae radiographically.[ncbi.nlm.nih.gov] […] brachydactyly nail hypoplasia scoliosis central nervous system mental retardation seizures ventriculomegaly agenesis of corpus callosum microcephaly microphthalmia congenital[radiopaedia.org] The patient developed difficulty breathing in the first few hours after birth from severe nasal hypoplasia.[ncbi.nlm.nih.gov]

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