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1,191 Possible Causes for Hyperconvex Fingernails, Overfolded Superior Helix, Thin Limbs

  • Wolf-Hirschhorn Syndrome

    Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat[…][ghr.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    fingernails 0001812 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw[rarediseases.info.nih.gov] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] The fingernails may be markedly hyperconvex. Flat feet and shortening of one of the lower limbs may occur and contribute to accentuate the clumsy, waddling gait ().[jped.com.br]

    Missing: Thin Limbs
  • Lenz-Majewski Syndrome

    Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features.[mendelian.co] fingernails 0001812 Hypogonadism Decreased activity of gonads 0000135 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Kyphosis Hunched[rarediseases.info.nih.gov] Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and[mendelian.co]

    Missing: Overfolded Superior Helix
  • Familial Short Stature

    […] lips and down‐slanted oral commissures) intellectual disability, upper limbs abnormalities and hypertrichosis.[intechopen.com] fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping Table 3.[aafp.org] […] retardation, characteristic craniofacial dysmorphic features (narrow forehead with low hair insertion line, synophrys, nostrils anteversion, prognathism, long philtrum, thin[intechopen.com]

    Missing: Overfolded Superior Helix
  • Adactyly of Foot

    Upper limb-transverse elements missing. Thin, hypoplastic hyperconvex fingernails.[medigoo.com] […] chondrodysplasia Visual loss Respiratory distress Hypoplasia of the calcaneus Metaphyseal cupping of proximal phalanges Abnormality of the calcaneus Distal shortening of limbs[mendelian.co] Thin, hypoplastic hyperconvex fingernails.[medigoo.com]

    Missing: Overfolded Superior Helix
  • Baller-Gerold Syndrome

    […] vermilion of the lips High arched palate Skeletal anomalies Upper limb anomalies.[ncbi.nlm.nih.gov] superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] […] associated with craniosynostosis Brachycephaly Proptosis Prominent forehead Large fontanelles Additional craniofacial features Concave nasal ridge Short nose Narrow mouth with thin[ncbi.nlm.nih.gov]

    Missing: Hyperconvex Fingernails
  • Pallister W Syndrome

    […] upper lip; Large ears; Simple auricles Limbs: Short thick fingers; Short thick toes; Hypoplastic toenails Radiology: Short, rounded, abnormal-shaped middle phalanges Lab:[findzebra.com] superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] Impaired histidine intestinal absorption GU: Impaired histidine renal tubular absorption HEENT: Nerve deafness; Protuberant ears; Broad nasal bridge ; Long shallow philtrum; Thin[findzebra.com]

    Missing: Hyperconvex Fingernails
  • Bonnemann-Meinecke-Reich Syndrome

    Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features.[mendelian.co] fingernails Delayed eruption of permanent teeth Sclerosis of skull base Abnormal nasolacrimal system morphology Chordee Prominent superficial veins Lacrimal duct stenosis[mendelian.co] Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and[mendelian.co]

    Missing: Overfolded Superior Helix
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs.[icd10data.com] fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping Table 3.[aafp.org] A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low[icd10data.com]

    Missing: Overfolded Superior Helix
  • SHORT Syndrome

    Major Findings: Need Three from Skin/Nails and One from Limbs to Make Diagnosis Skin/Nails Congenital patchy skin aplasia (95% of individuals) evidenced by thin or absent[nfed.org] fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping Table 3.[aafp.org] A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs.[icd10data.com]

    Missing: Overfolded Superior Helix

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