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45 Possible Causes for Hypertrichosis of Eyebrows, Single Transverse Palmar Crease, Sparse Hair

  • Coffin-Lowry Syndrome

    NCBRS has significant phenotypic overlap with CSS, including intellectual disability, speech impairment, sparse scalp hair, and short stature.[dnatesting.uchicago.edu] 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]

  • Opitz-Kaveggia Syndrome

    There were, however, some dysmorphic facial features such as sparse, thin, and fragile hair with an abnormal pigmentation starting high in the frontal area.[kundoc.com] Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].[ncbi.nlm.nih.gov] […] fullness, a wide mouth with full lips, and coarse facial features as well as fifth fingernail hypoplasia, absence of terminal phalanges, hypertrichosis, developmental delay[karger.com]

  • Coffin-Siris Syndrome 2

    In younger girls there seems to be a striking phenotypic overlap with Coffin-Siris syndrome, which is characterized by intellectual disability, sparse hair and hypoplastic[ncbi.nlm.nih.gov] 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]

  • Rapp-Hodgkin Syndrome

    This syndrome is characterized by stiff sparse hair with the appearance of steel wool, sparse eyebrows and lashes, cleft palate, absence of lacrimal punctae, epiphora, a decreased[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 syndrome is characterized by stiff, sparse hair with the appearance of steel wool, sparse eyebrows and lashes, cleft palate, absence of lacrimal punctae, epiphora, a[jocpd.org]

  • Short Stature - Optic Atrophy - Pelger-Huët Anomaly Syndrome

    transverse palmar crease Syndactyly Cutis laxa Congenital eye abnormality Hypermetropia Myopia Optic atrophy Strabismus Micromelia • • • Back to: « Short stature, optic nerve[familydiagnosis.com] […] atrophy, and pelger-huet anomaly may include: Pelger-Huet anomaly Short Stature Brachycephaly Epicanthus Hypertelorism Proptosis Thin vermilion border Brachydactyly Sandal gap Single[familydiagnosis.com]

  • Zlotogora-Ogur Syndrome

    […] and twisted hair (pili torti) and absent or sparse eyebrows, hypohidrosis, dry skin, palmoplantar keratoderma, abnormal teeth (delayed eruption, microdontia/hypodontia, and[dovemed.com] Hypoplasia of the zygomatic bone Generalized hypertrichosis Breast aplasia Meningoencephalocele Abnormality of the genital system Bulbous nose Microtia Abnormality of the[mendelian.co] transverse palmar creases 0007598 Carious teeth Dental cavities Tooth cavities Tooth decay [ more ] 0000670 Downslanted palpebral fissures Downward slanting of the opening[rarediseases.info.nih.gov]

  • BOD Syndrome

    Dysmorphic facial features included high forehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia.[ncbi.nlm.nih.gov] transverse palmar crease Thin skin Dysostosis multiplex Highly arched eyebrow Dystonia Gait ataxia Growth hormone deficiency Long eyelashes Sparse hair Hepatomegaly Failure[mendelian.co] […] 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]

  • Wiedemann-Steiner Syndrome

    Nicolaides-Baraitser syndrome is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair.[bredagenetics.com] 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]

  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. 22q11.2 Deletion Syndrome May 12, 2018 by Peter Ciszewski[checkrare.com] Single transverse palmar crease MedGen UID: 96108 • Concept ID: C0424731 • Finding A single transverse palmar crease is found in 5% of newborns and is frequently inherited[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]

  • Trichodental Syndrome

    Diseases related with Microcephaly and Sparse hair In the following list you will find some of the most common rare diseases related to Microcephaly and Sparse hair that can[mendelian.co] transverse palmar creases Skin ulcer Highly arched eyebrow Carious teeth Abnormality of the kidney Synophrys Scrotal hypoplasia Neurological speech impairment Hyperlordosis[mendelian.co] transverse palmar crease Skin peeling disorder Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Symmetrical dyschromatosis of extremities[icdlist.com]

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