Create issue ticket

25 Possible Causes for Coxa Valga, Hypertrichosis of Eyebrows, Single Transverse Palmar Crease

  • 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] […] color of hands, feet, or parts of face 0001063 Bifid sternum 0010309 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Coarse hair Coarse hair texture 0002208 Coxa[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]

  • Coffin-Siris Syndrome
  • Hypertrichotic Osteochondrodysplasia

    transverse palmar crease Tics Hernia Polyhydramnios Autosomal recessive inheritance Inguinal hernia Protruding ear Thin vermilion border High, narrow palate Delayed eruption[mendelian.co] Coxa Valga [Vertically-oriented femoral neck] Coxa valga is a nonspecific defect occurring in a variety of unrelated disorders, both congenital or acquired.[rrnursingschool.biz] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net]

  • Coffin-Siris Syndrome 2

    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] Frequent features (75% to 90%) include postnatal growth deficiency, microcephaly, wide nasal tip and mouth, prominent lips, eyebrow/eyelash hypertrichosis, and scalp hair[ncbi.nlm.nih.gov]

  • 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]

  • BOD Syndrome

    transverse palmar crease Thin skin Dysostosis multiplex Highly arched eyebrow Dystonia Gait ataxia Growth hormone deficiency Long eyelashes Sparse hair Hepatomegaly Failure[mendelian.co] Other features are less common: congenital heart defects, central nervous system abnormalities, urogenital anomalies, dislocated radial head, coxa valga.[cambridge.org] As the coxa valga comes to 180,its anterior projection is really an intertrochanteric flexion deformity of thefemur and does not reflect anteversion at all.[lumiererestaurant.com]

  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    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] valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.[mendelian.co] However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.[ncbi.nlm.nih.gov]

  • 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] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org] Since variable expressionoccurs in autosomal dominant conditions and synophris,bushy eyebrows and hypertrichosis were not present inunaffected family members, the diagnosis[docslide.com.br]

  • Qazi-Markouizos Syndrome

    transverse palmar crease Highly arched eyebrow Underdeveloped nasal alae Intrauterine growth retardation Long eyelashes Delayed puberty Talipes equinovarus Growth delay Congenital[mendelian.co] The coarse facial features and hypertrichosis of the eyebrows may not be present at birth but may develop after early infancy.[link.springer.com] valga Ophthalmoplegia Abnormality of skin pigmentation Decreased muscle mass Triangular face Limitation of joint mobility Bifid uvula Webbed neck Knee flexion contracture[mendelian.co]

  • Autosomal Dominant Mental Retardation Type 21

    transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction; developmental delay, especially speech Chromosome analysis in all patients; chromosome[aafp.org] These may include a deformity of the hip (coxa valga), a short breastbone (sternum), and/or abnormally thin ribs.[rarediseases.org] […] cases may be inherited from a balanced translocation carrier parent Hypotonia; flat facial profile; upslanting palpebral fissures; small ears; in-curving fifth fingers; single[aafp.org]

Similar symptoms