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62 Possible Causes for Dysmorphic Face, Low Set Ears, Receding Chin

  • Mandibulofacial Dysostosis

    Plastic surgery can correct the receding chin and other changes in face structure.[medlineplus.gov] Patients have facial dysmorphism including mid-face hypoplasia, micrognathia and characteristic external ear malformation with small, simple, protuberant ears.[exeterlaboratory.com] Mellitus With Optic Atrophy And Deafness (Didmoad) Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy (Didmo) Syndrome Diabetes Mellitus-Mental Retardation-Lipodystrophy-Dysmorphic[neo-genetics.com]

  • Turner Syndrome

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Secondary amenorrhea Previous menstrual periods stop 0000869 Shield chest 0000914 Short 4th metacarpal Shortened[rarediseases.info.nih.gov] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[nichd.nih.gov] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary amenorrhea 0000786 Recurrent otitis media Recurrent middle ear infection 0000403 Retrognathia Receding[rarediseases.info.nih.gov]

  • Trisomy 18

    chin, convex soles of the feet, a webbed neck, and fingers bent in a unique configuration.[britannica.com] During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad[ncbi.nlm.nih.gov] Symptoms Clenched hands Crossed legs (preferred position) Feet with a rounded bottom (rocker-bottom feet) Low birth weight Low-set ears Mental deficiency Small head ( microcephaly[web.archive.org]

  • Schwartz-Jampel Syndrome

    The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low[ncbi.nlm.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] English Add a one-line explanation of what this file represents Description The patient with Schwartz-Jampel syndrome (OMIM#255800) presenting blepharophimosis, pursed lips, low-set[commons.wikimedia.org]

  • Seckel Syndrome

    The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed[ncbi.nlm.nih.gov] […] the deletion present in the propositus, are reviewed and include pre- and postnatal growth retardation, psychomotor retardation, microcephaly, micrognathia, and abnormal/low-set[ncbi.nlm.nih.gov] face (bird-like), and mild to severe intellectual disability.[orpha.net]

  • Pierre Robin Syndrome

    In addition to micrognathia, infants are born with a prominent occiput, microcephaly, low-set ears, and renal and cardiac defects.[consultant360.com] A transvaginal ultrasound scan performed at 13 weeks' gestation revealed an abnormal fetal facial profile consisting of a small mandible and a receding chin.[ncbi.nlm.nih.gov] Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age[emedicine.medscape.com]

  • Robinow Syndrome

    chin Weak jaw Receding lower jaw Weak chin [ more ] 0000278 Rhizomelia Disproportionately short upper portion of limb 0008905 Short neck Decreased length of neck 0000470[rarediseases.info.nih.gov] The dysmorphic face was characterized by low set ears, flat-saddle nose, hypertelorism, elevated tip of nose and fish mouth ( Figure 1 ).[thritajournal.com] chin, brachydactyly, hypoplastic genitalia, and a normal karyotype.[icd10data.com]

  • SHORT Syndrome

    chin, brachydactyly, hypoplastic genitalia, and a normal karyotype.[icd10data.com] CASE PRESENTATION: We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent[ncbi.nlm.nih.gov] Fig. 1 Dysmorphic features (triangular-shaped face with prominent forehead and deeply-set eyes) Fig. 2 Dysmorphic features and body silhouette - front view Fig. 3 Lipodystrophy[ijponline.biomedcentral.com]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Abnormalities of the head usually consist of epicanthal microcephaly, skin folds, long philtrum, antimongoloid palpebral slant, low-set ears, pointed and receding chin, ptosis[whonamedit.com] ( arthrogryposis ) are common scoliosis variable other features include intrauterine death congenital respiratory distress short stature faciocranial dysmorphism ptosis low-set[anvita.info] At birth, variable joint contractures multiple pterygia facial dysmorphism with long face, high-arched palate, small mouth, and retrognathism. 12.[slideshare.net]

  • Cleidocranial Dysplasia

    chin; underdeveloped, malformed, or prominent ears; and small tufts of hair in front of the ears.[medical-dictionary.thefreedictionary.com] Crane-Heise syndrome is characterized by a large head, poorly mineralized calvarium, cleft lip and palate, low-set dysplastic ears, hypoplastic clavicles and scapulae, agenesis[jocr.co.in] The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[ncbi.nlm.nih.gov]

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