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12 Possible Causes for Hypertrichosis of Eyebrows, Long Lashes, Single Transverse Palmar Crease

  • 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] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Coffin-Siris Syndrome
  • Wiedemann-Steiner Syndrome

    transverse palmar crease Delayed eruption of teeth Spastic paraplegia EEG abnormality Omphalocele Cerebral cortical atrophy Upslanted palpebral fissure Polyhydramnios Abnormality[mendelian.co] Affected individuals had long lashes, wide-set eyes, arched brows, a long philtrum (the space between the nose and the upper lip), short nose, low-set ears and a high palate[geneticliteracyproject.org] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    transverse palmar creases Abnormality of dental enamel Sparse eyelashes Abnormal dermatoglyphics Palmoplantar hyperkeratosis Aplasia/Hypoplasia of the eyebrow Abnormality[mendelian.co] Confluent eyebrows with hypertrichosis of the medial portions (synophrys) are present in 85% of patients with WS1 and in 25% of patients with WS2.[emedicine.medscape.com] […] nail Broad forehead Astigmatism Nevus Abnormality of the ureter Sparse hair Neurological speech impairment Abnormality of the kidney Triangular face Hypohidrosis Bilateral single[mendelian.co]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    transverse palmar crease Abnormal heart morphology Pain Generalized hypertrichosis Epicanthus Generalized hirsutism Low anterior hairline Delayed eruption of teeth Cognitive[mendelian.co] […] eye lashes.[jisppd.com] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

  • Acrorenal Mandibular Syndrome

    transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield spots), 3 fontanelles[quizlet.com] Sparse and thin eyebrow Small nail Large fontanelles Enlarged cochlear aqueduct Dilatated internal auditory canal Incomplete partition of the cochlea type II Atresia of the[mendelian.co] […] eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures (23%), congenital[quizlet.com]

  • 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] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org] Clinical features of the disorder include short stature, smallness of the head, obliquely slanted eyes, a flattened face, wide hands with a single transverse palmar crease[britannica.com]

  • Eyebrow Duplication - Syndactyly Syndrome

    transverse palmar crease Brachydactyly Nevus Cataract Preauricular skin furrow Torticollis Prominent scrotal raphe Prominent umbilicus Downturned corners of mouth Alacrima[mendelian.co] […] course, the bushy eyebrows and long lashes (in 98%).[disorders.eyes.arizona.edu] , microcephaly, broad thumbs and hallux which are often angulated, hyper-extensive joints, small tilted pelvis, hypertrichosis, and undescended testes. [2] Current literature[faoj.org]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield spots), 3 fontanelles[quizlet.com] (abnormal hair density and length) Hirsutisme dorsal (hairy back) Synophrys (abundant hair between the eyebrows) Congenital dislocations/Skeletal BOS Posture [1] Scoliosis[bohring-opitz.org] transverse palmar crease, Adrenal hypoplasia, Macroglossia, Intrahepatic biliary dysgenesis, Patent ductus arteriosus, Subependymal cysts, Posteriorly rotated ears, Abnormal[nipd.com]

  • Syndromic Orbital Border Hypoplasia

    transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield spots), 3 fontanelles[quizlet.com] Confluent eyebrows with hypertrichosis of the medial portions (synophrys) are present in 85% of patients with WS1 and in 25% of patients with WS2.[emedicine.medscape.com] […] eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures (23%), congenital[quizlet.com]