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732 Possible Causes for Hypertrichosis of Eyebrows, Poor Growth in Infancy, Single Transverse Palmar Crease

  • Rubinstein-Taybi Syndrome

    There is a marked growth retardation with poor weight gain during infancy, often replaced by being overweight in later childhood.[ommbid.mhmedical.com] 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]

  • 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]

  • 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]

    Missing: Poor Growth in Infancy
  • Stuve-Wiedemann Syndrome

    Deficient thyroid hormone production can result in intellectual disability in infancy and childhood and poor growth in infancy, childhood, and adolescence.[ncbi.nlm.nih.gov] transverse palmar crease 0000954 Square face Square facial shape 0000321 Talipes 0001883 Talipes valgus 0004684 Thin ribs Slender ribs 0000883 Thin skin 0000963 Tibial bowing[rarediseases.info.nih.gov] Deficiency of hormones made by the anterior pituitary can result in growth hormone deficiency and insufficient production of thyroid or sex hormones.[ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows
  • Wolf-Hirschhorn Syndrome

    […] weak cry in infancy, poor muscle tone (hypotonia), seizures, severe developmental delays, severe delay of motor skills, crossed eyes (Strabismus), droopy eyelids (ptosis),[flipper.diff.org] [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com] transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal[pathophys.org]

    Missing: Hypertrichosis of Eyebrows
  • Coffin-Siris Syndrome 2

    Prader–Willi syndrome Genetic condition that is characterized by hypotonia, feeding difficulties, poor growth, delayed development and behavioural problems.[nature.com] 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] 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]

  • Char Syndrome

    In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development.[ghr.nlm.nih.gov] The syndrome may also include various dermatoglyphics , including transverse flexion creases, distal axial triradius, increased whorls and arches on digits and a single palmar[en.wikipedia.org] At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time.[ghr.nlm.nih.gov]

  • Coffin-Siris Syndrome
    Missing: Poor Growth in Infancy
  • 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.medscape.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 Poor Growth in Infancy
  • 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] […] planus Flat feet Flat foot [ more ] 0001763 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short neck Decreased length of neck 0000470 Single[rarediseases.info.nih.gov]

    Missing: Hypertrichosis of Eyebrows Poor Growth in Infancy