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13 Possible Causes for Hypertrichosis of Eyebrows, Single Transverse Palmar Crease, Small Fingernails

  • 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] A consistent feature is the large, puffy, soft hands with tapering fingers distally, small fingernails and full forearms.[genedx.com] DOORS syndrome (deafness, osteodystrophy, mental retardation, and seizures) syndrome is characterized by sensorineural deafness, shortened terminal phalanges with small fingernails[dnatesting.uchicago.edu]

  • Autosomal Dominant Prognathism

    transverse palmar crease Short neck Sparse hair Dry skin Nevus High forehead Dolichocephaly Hip dislocation Coloboma Prominent nasal bridge Hypoplastic fingernail Nystagmus[mendelian.co] […] strabismus Branchial fistula Lip pit Dermoid cyst Lacrimal duct atresia Everted upper lip vermilion Postauricular pit Fusion of middle ear ossicles Lacrimal duct stenosis Small[mendelian.co] […] congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows[mendelian.co]

  • BOD Syndrome

    transverse palmar crease Thin skin Dysostosis multiplex Highly arched eyebrow Dystonia Gait ataxia Growth hormone deficiency Long eyelashes Sparse hair Hepatomegaly Failure[mendelian.co] […] fifth fingernail Underdeveloped fingernail of little finger Underdeveloped fingernail of pinkie finger Underdeveloped fingernail of pinky finger [ more ] 0008398 Hypoplastic[rarediseases.info.nih.gov] […] and eyelash hypertrichosis, diffuse hirsutism and, most typically, hypoplastic to absent fifth finger nails and phalanges (Fig. 39.2), although other fingers and/or toes[cambridge.org]

  • 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] DOORS syndrome (deafness, osteodystrophy, mental retardation, and seizures) syndrome is characterized by sensorineural deafness, shortened terminal phalanges with small fingernails[dnatesting.uchicago.edu] 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]

  • Pfeiffer-Palm-Teller Syndrome

    transverse palmar crease Cafe-au-lait spot Otitis media Poor suck Recurrent otitis media Pulmonary arterial hypertension Dental crowding Depressivity Gait disturbance Ataxia[mendelian.co] […] the voice Hypercalcemia Dysphonia Abnormality of pelvic girdle bone morphology Calcinosis Ischemic stroke Incoordination Dehydration Sudden cardiac death Hypsarrhythmia Small[mendelian.co] High myopia Sparse scalp hair Wide nose Thin skin Sparse and thin eyebrow Bowing of the long bones Arthrogryposis multiplex congenita Elbow flexion contracture Accelerated[mendelian.co]

  • 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] Such changes include misshapen or malformed fingernails and toenails, abnormally small nail plates (micronychia), frayed edges of the nails, and absent nails.[rarediseases.org] Hypoplasia of the zygomatic bone Generalized hypertrichosis Breast aplasia Meningoencephalocele Abnormality of the genital system Bulbous nose Microtia Abnormality of the[mendelian.co]

  • Thanatophoric Dysplasia

    transverse palmar crease Hydronephrosis Toe syndactyly Anal atresia Flexion contracture Upslanted palpebral fissure Short palpebral fissure Wide mouth Feeding difficulties[mendelian.co] […] alkaline phosphatase Hemangioma Coxa valga Accelerated skeletal maturation Long eyelashes Low anterior hairline Recurrent hypoglycemia Hypertrichosis Dandy-Walker malformation Small[mendelian.co] […] lungs Cloverleaf skull Feeding difficulties in infancy Rare Symptoms - Less than 30% cases Smooth philtrum Hypoglycemia Talipes Hyperhidrosis Mandibular prognathia Thick eyebrow[mendelian.co]

  • Absence or Deformity of Leg- Cataract Syndrome

    transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield spots), 3 fontanelles[quizlet.com] The pinky fingernail is least likely to be affected. Fingernails may be small and concave with pitting, ridges, splits, and/or discoloration.[healthofchildren.com] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org]

  • 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] Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose[nfed.org] transverse palmar crease Skin peeling disorder Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Symmetrical dyschromatosis of extremities[icdlist.com]

  • Anonychia - Onychodystrophy Syndrome

    Other anomalies in- clude clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children.[docslide.net] Showing of 21 80%-99% of people have these symptoms Aplastic/hypoplastic toenail Absent/small toenails Absent/underdeveloped toenails [ more ] 0010624 Brachydactyly Short[rarediseases.info.nih.gov] […] of the medial part of the eyebrows” is present, meaning excessive hair growth in the patients’ eyebrow region, most likely leading to a unibrow. [ 6 ] The fourth symptom,[senyawa-kimia.blogspot.com]