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965 Possible Causes for Hypertrichosis of Eyebrows, Joint Range of Motion Increased, 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] Surgery resulted in complete pain relief, increased knee range of motion and marked improvement in the patient's gait.[ncbi.nlm.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]

  • 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] 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]

  • Aarskog-Scott Syndrome

    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] Sporadic Symptoms Round face and a shorter neck, epicanthic folds, maxillary hypoplasia, which causes several facial abnormalities, and single transverse palmar crease may[news-medical.net] […] move beyond expected range of motion 0005692 Long philtrum 0000343 Low-set, posteriorly rotated ears 0000368 Ptosis Drooping upper eyelid 0000508 Wide nasal bridge Broad[rarediseases.info.nih.gov]

    Missing: Hypertrichosis of Eyebrows
  • Distal Symphalangism

    transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[mendelian.co] Summary of the Patients ROM: range of motion, Rt: right, Lt: left, PIP: proximal interphalangeal, IP: interphalangeal, DIP: distal interphalangeal.[pc.ecios.org] (29-5%) 20 tall stature 33 HP:0000098 21 short 1st metacarpal 33 HP:0010034 22 broad foot 33 HP:0001769 23 single transverse palmar crease 33 HP:0000954 24 camptodactyly[malacards.org]

    Missing: Hypertrichosis of Eyebrows
  • 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] […] 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] transverse palmar creases Hoarse voice Severe global developmental delay Pes cavus Widely spaced teeth Pulmonary artery atresia Missing ribs Long nose Arnold-Chiari type[mendelian.co]

  • 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] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

    Missing: Joint Range of Motion Increased
  • Coffin-Siris Syndrome
    Missing: Joint Range of Motion Increased
  • Neurogenic Arthrogryposis Multiplex Congenita

    transverse palmar crease 0000954 Stiff shoulders 0009742 Trismus Lockjaw 0000211 Ulnar deviation of the hand or of fingers of the hand 0001193 Showing of 30 Last updated:[rarediseases.info.nih.gov] In these cases, surgery may be recommended to achieve better positioning and increase the range of motion in certain joints.[rarediseases.info.nih.gov] transverse palmar crease Arachnodactyly Pectus carinatum Kyphoscoliosis Long philtrum Talipes equinovarus Pain Bruising susceptibility Soft skin Scarring Tremor Cataract[mendelian.co]

    Missing: Hypertrichosis of Eyebrows
  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.com] […] brachycephalic head, epicanthic folds, flat nasal bridge, upward slanting palpebral fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single[dx.doi.org]

    Missing: Hypertrichosis of Eyebrows Joint Range of Motion Increased
  • Postaxial Oligodactyly, Tetramelic

    transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12[malacards.org] transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[mendelian.co] transverse palmar crease Radial deviation of finger Broad hallux Cleft upper lip Gastrointestinal dysmotility Postnatal macrocephaly Microtia, first degree Branchial fistula[mendelian.co]

    Missing: Hypertrichosis of Eyebrows Joint Range of Motion Increased