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461 Possible Causes for Hirsutism, Retrognathia, Short Neck

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] , and a short neck.[ncbi.nlm.nih.gov] Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs.[ncbi.nlm.nih.gov]

  • Turner Syndrome

    [ more ] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary amenorrhea 0000786 Recurrent otitis media Recurrent middle ear infection 0000403 Retrognathia[rarediseases.info.nih.gov] A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.[ncbi.nlm.nih.gov] Additional physical findings may include a receding jaw (retrognathia), crossed eyes (strabismus), lazy eyes (amblyopia), drooping eyelids, and a narrow, high-arched roof[rarediseases.org]

  • Hypertrichotic Osteochondrodysplasia

    Micromelia Narrow chest Arrhythmia Finger syndactyly Short finger Abnormality of the metaphysis Gingival overgrowth Ptosis Failure to thrive X-linked recessive inheritance Retrognathia[mendelian.co] […] syndrome Differential Diagnoses Acquired generalized hypertrichosis Congenital hypertrichosis universalis Dermatologic Manifestations of Hirsutism Dermatologic Manifestations[emedicine.medscape.com] The female patient had a short neck, narrow thorax, and generalized hypertrichosis.[genome.jp]

  • Polycystic Ovary Syndrome

    […] in infancy (quadricephaly with protruding forehead, flat nasal bridge, low set ears with attached earlobes, small mouth, high arched palate with submucous palatal cleft, retrognathia[ncbi.nlm.nih.gov] […] baldness or thinning hair Patches of skin on the neck, arms, breasts, or thighs that are thick and dark brown or black Skin tags — excess flaps of skin in the armpits or neck[web.archive.org] Based on results of drug studies on hirsutism, a longer trial of several months may be required to clinically confirm the effects of spearmint tea on hirsutism. 10 In addition[ndnr.com]

  • Dyssegmental Dysplasia Type Rolland-Desbuquois

    Retrognathism see Retrognathia Retrograde ejaculation Retrolental fibroplasia Retroperitoneal fibrosis Retroperitoneal haemorrhage Retropharyngeal abscess Retrovir see Zidovudine[diseasesdatabase.com] (single case) Head And Neck Face: micrognathia flat face round face midface hypoplasia Head And Neck Eyes: glaucoma shallow orbits dislocated lens Skin Nails Hair Hair: hirsutism[malacards.org] Autosomal recessive inheritance ; Bowing of the long bones ; Broad long bones ; Camptodactyly ; Cleft palate ; Encephalocele ; Equinovarus deformity ; Flat face ; Glaucoma ; Hirsutism[mousephenotype.org]

  • Lytic Bone Lesion

    […] hypoplasia / absence - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial dysmorphism - Hypertelorism - Long philtrum - Micrognathia / retrognathia[csbg.cnb.csic.es] […] mouth with dental anomalies, low-set ears, and short neck.[iofbonehealth.org] SFPKS was first described in a 5-year-old female with a distinct facial appearance, proportional short stature, hirsutism, polycystic kidneys, vertebral abnormalities, elongated[nature.com]

  • Cornelia De Lange Syndrome

    Retrognathia (recession of the chin) is assessed through the measurement of the inferior facial angle, as defined on a mid-sagittal view.[f1000research.com] neck (66 percent of cases) Hand abnormalities such as missing fingers, very small hands, and/or inward deviation of the pinky fingers Heart defects Infants with Cornelia[verywell.com] There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism.[ncbi.nlm.nih.gov]

  • Rubinstein-Taybi Syndrome

    […] mutations, with milder cognitive impairment, more pronounced microcephaly, absent or mild downslanting of palpebral fissures, distinct arched eyebrows, and greater degree of retrognathia[ncbi.nlm.nih.gov] Examination showed a woman of short stature (120 cm, 45 kg). She had a pronounced kyphoscoliosis.[bja.oxfordjournals.org] Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes,[ncbi.nlm.nih.gov]

  • Trisomy 8q

    Symptoms - Chromosome 8- trisomy 8q * Prominent forehead * Small jaw * Retrognathia * Flat back of skull * Mandibular prognathism * Chin dimple * Large ears * Abnormal pinnae[checkorphan.org] […] and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis[ncbi.nlm.nih.gov] Affiliated tissues include bone , heart and tongue , and related phenotypes are hypertelorism and short neck[malacards.org]

  • Trisomy 4p

    […] share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia[ncbi.nlm.nih.gov] […] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.[ncbi.nlm.nih.gov] […] year-old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism[ncbi.nlm.nih.gov]

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