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10 Possible Causes for Hyperconvex Fingernails, Hypertrichosis of Eyebrows, Single Transverse Palmar Crease

  • Coffin-Lowry Syndrome

    transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.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] 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]

  • Hypertrichotic Osteochondrodysplasia

    transverse palmar crease Tics Hernia Polyhydramnios Autosomal recessive inheritance Inguinal hernia Protruding ear Thin vermilion border High, narrow palate Delayed eruption[mendelian.co] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net] Clinical examination showed a mentally alert, well-built girl with hypertrichosis, presenting with extremely bushy eyebrows with downy growth of hair on the cheeks, chin,[ijdr.in]

  • SHORT Syndrome

    transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com] fingernails and toenails; may be normal appearing; decreased growth velocity and delayed puberty Follicle-stimulating hormone, karyotyping Table 3.[aafp.org] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com]

  • Coffin-Siris Syndrome 2

    transverse palmar creases 0007598 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Cleft palate Cleft roof of mouth 0000175 Congenital diaphragmatic[rarediseases.info.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] 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]

  • Zlotogora-Ogur Syndrome

    transverse palmar creases Carious teeth Downslanted palpebral fissures Dystrophic fingernails Dystrophic toenail Highly arched eyebrow Hypogonadism Hypoplasia of the zygomatic[dovemed.com] Renal dysplasia Feeding difficulties Abnormal heart morphology Palmoplantar keratoderma Short nose Lacrimal duct atresia Hyperconvex nail Ectrodactyly Hoarse voice Widely[mendelian.co] transverse palmar creases 0007598 Carious teeth Dental cavities Tooth cavities Tooth decay [ more ] 0000670 Downslanted palpebral fissures Downward slanting of the opening[rarediseases.info.nih.gov]

  • Rapp-Hodgkin Syndrome

    transverse palmar creases Wide intermamillary distance Highly arched eyebrow Synophrys Neurological speech impairment Macrotia Abnormality of dental morphology Midface retrusion[mendelian.co] Renal dysplasia Feeding difficulties Abnormal heart morphology Palmoplantar keratoderma Short nose Lacrimal duct atresia Hyperconvex nail Ectrodactyly Hoarse voice Widely[mendelian.co] Hypoplasia of the zygomatic bone Generalized hypertrichosis Breast aplasia Meningoencephalocele Abnormality of the genital system Bulbous nose Microtia Abnormality of the[mendelian.co]

  • Trichodental Syndrome

    transverse palmar creases Skin ulcer Highly arched eyebrow Carious teeth Abnormality of the kidney Synophrys Scrotal hypoplasia Neurological speech impairment Hyperlordosis[mendelian.co] transverse palmar crease Skin peeling disorder Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Symmetrical dyschromatosis of extremities[icdlist.com] fingernails Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Submucous cleft soft palate Periorbital wrinkles[mendelian.co]

  • Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

    A single transverse palmar crease and a 2-cm dorso-lumbar hairy patch were noted.[nature.com] fingernails cerebral anomalies cavum septum pellucidum absent septum pellucidum interventricular cysts hydrocephalus placental chorioangioma ( 2062819 ) jugular lymphatic[humpath.com] […] that meet in the middle (synophrys), downturned mouth, high arched palate, hypertrichosis, long eyelashes, short limbs Dubowitz syndrome Unknown; suspected autosomal recessive[aafp.org]

  • Trichoodontoonychial Dysplasia

    transverse palmar crease Convex nasal ridge Cutaneous photosensitivity Scrotal hypoplasia High palate Death in childhood Large beaked nose Nevus Coma Blindness Macrotia Hypothalamic[mendelian.co] […] nail Ankyloblepharon Hearing impairment Patchy alopecia Dystrophic fingernails Micrognathia Protruding ear Lacrimal duct atresia Premature loss of permanent teeth Hypospadias[mendelian.co] Scarring Hirsutism Generalized hypotonia Macroglossia Dandy-Walker malformation Hypertrichosis Long eyelashes Thick nasal alae Abnormal corpus callosum morphology Aplasia[mendelian.co]

  • Mirhosseini-Holmes-Walton Syndrome

    transverse palmar crease Long face Abnormality of skin pigmentation Gait ataxia Sandal gap Optic atrophy Patent ductus arteriosus Gastroesophageal reflux Horseshoe kidney[mendelian.co] fingernails Thin eyebrow Corneal scarring Abnormality of the upper urinary tract Alopecia universalis Cheilitis Alopecia totalis Recurrent corneal erosions Heat intolerance[mendelian.co] […] of upper lip (rare); [Ears]; Prominent earlobes (in some patients); Bilateral sensorineural hearing loss (in some patients); [Eyes]; High arched eyebrows; Sparse eyebrows[findzebra.com]