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170 Possible Causes for Hypertrichosis of Eyebrows, Single Transverse Palmar Crease, Straight, Coarse Hair

  • Coffin-Lowry Syndrome

    hair Coarse hair texture 0002208 Coxa valga 0002673 Cutis laxa Loose and inelastic skin 0000973 Cutis marmorata 0000965 Decreased body weight Decreased weight Low body weight[rarediseases.info.nih.gov] 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] […] alae 0000429 Acrocyanosis Persistent blue color of hands, feet, or parts of face 0001063 Bifid sternum 0010309 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Coarse[rarediseases.info.nih.gov] Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Mitral regurgitation 0001653 Prominent supraorbital ridges Prominent brow 0000336 Rectal prolapse 0002035 Single[rarediseases.info.nih.gov]

    Missing: Straight
  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] […] a congenital condition characterized by mental and motor retardation; broad thumbs and great toes; short stature; characteristic facies, including high-arched palate and straight[medical-dictionary.thefreedictionary.com] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[ncbi.nlm.nih.gov]

    Missing: Coarse Hair
  • Thanatophoric Dysplasia

    […] facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.[mendelian.co] Cloverleaf skull and relatively straight, shortened long bones distinguish this condition from the more common type 1 thanatophoric dysplasia.[ncbi.nlm.nih.gov] A prenatal diagnosis of cloverleaf skull, short limbs, straight femurs, and occipital pseudoencephalocele should include a differential diagnosis of TD2.[ncbi.nlm.nih.gov] transverse palmar crease Hydronephrosis Toe syndactyly Anal atresia Flexion contracture Upslanted palpebral fissure Short palpebral fissure Wide mouth Feeding difficulties[mendelian.co]

  • Wiedemann-Steiner Syndrome

    hair Thickened skin Large forehead Abnormal lung morphology Ketoacidosis Hyperinsulinemic hypoglycemia Brain atrophy Delayed myelination Cerebral calcification Dorsocervical[mendelian.co] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] When something is bothering me, for instance, I tend to consume food and drink straight from the container.[bluegrassredhead.com] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

  • Aarskog-Scott Syndrome

    […] changes - The hair was coarse, dry, and relatively hypopigmented with widow's peak trait.[ibis-birthdefects.org] transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] Cerebral angiography showed absence of the straight sinus as well as other abnormalities of the cerebral venous drainage.[ncbi.nlm.nih.gov] Although one eye is usually pointed straight ahead, the other is turned toward a different direction (up, down, pointed out etc.).[pfond.cmmt.ubc.ca]

    Missing: Hypertrichosis of Eyebrows
  • Pallister-Killian Syndrome

    The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures[ncbi.nlm.nih.gov] He shot red straight out his trach but he never got a pneumonia from it.[web.mclink.it] Salient Features 1-5 Craniofacial : Coarse facies, prominent forehead with frontal bossing Sparse hair over the parieto-temporal region.[genetics4medics.com] 'Luckily we've been able to use some of that fundraising money to take it straight to the real estate agent who was understanding enough to let us stay even though we had[dailymail.co.uk]

    Missing: Hypertrichosis of Eyebrows
  • Kaufman Oculocerebrofacial Syndrome

    An "adult growth of hair of head" at 5 years of age was pictured in the case of one of the girls.[findzebra.com] transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.nih.gov] transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma[mendelian.co] If the "straight" eye is being tested, there will be no change in fixation, as it is already fixated.[findzebra.com]

    Missing: Hypertrichosis of Eyebrows
  • Rapp-Hodgkin Syndrome

    The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy.[ncbi.nlm.nih.gov] transverse palmar creases Wide intermamillary distance Highly arched eyebrow Synophrys Neurological speech impairment Macrotia Abnormality of dental morphology Midface retrusion[mendelian.co] This inflexible tube forces the shape of the fiber to be straight and inflexible.[keratin.com] Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti.[q9.placate.us]

  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    Hirsutism MedGen UID: 42461 • Concept ID: C0019572 • Finding A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution[ncbi.nlm.nih.gov] […] some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Global developmental delay Abnormal facial shape Delayed speech and language development Thick eyebrow[mendelian.co] […] nonsyndromal XLMR) hypotonia, in some cases hemoglobin H inclusions in erythrocytes Christianson syndrome Short stature, microcephaly, long narrow face, large ears, long straight[factpub.org] Since this approach oftenpermits a relatively straight-forward path to gene identifi-cation, continued collection of both clinical data andblood samples remains important.[docslide.com.br]

  • Acrofacial Dysostosis Type Catania

    hair Coarse hair texture 0002208 Facial cleft Cleft of the face 0002006 Hypospadias 0000047 Inguinal hernia 0000023 Pectus excavatum Funnel chest 0000767 Premature birth[rarediseases.info.nih.gov] The signs and symptoms of Acrofacial Dysostosis, Catania type may include: Widow's peak Single transverse palmar crease Very frequently present symptoms in 80-99% of the cases[dovemed.com] […] 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] transverse palmar crease ; Widow's peak Associated Genes - Mouse Orthologs - Source OMIM:101805 (names, synonyms, disease associated genes) , Orphanet (disease classes) ,[mousephenotype.org]

    Missing: Straight

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