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

  • Trisomy 18

    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] chin, convex soles of the feet, a webbed neck, and fingers bent in a unique configuration.[britannica.com] Babies born with trisomy 18 can have heart and kidney problems, a small head with low-set ears, a chest with an unusual shape, and crossed legs.[myhealth.alberta.ca]

  • Rubinstein-Taybi Syndrome

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Scoliosis Abnormal curving of the spine 0002650 Self-mutilation Deliberate self-harm Self mutilation [ more ][rarediseases.info.nih.gov] […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[medical-dictionary.thefreedictionary.com] Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects[ncbi.nlm.nih.gov]

  • Seckel Syndrome

    […] 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] 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] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[joacp.org]

  • SHORT Syndrome

    […] eyes, lack of facial fat, hypoplastic nasal alae with overhanging columella, mild midface hypoplasia, small chin, large low-set ears, thin Vermillion, and downtumed mouth[questia.com] chin, brachydactyly, hypoplastic genitalia, and a normal karyotype.[icd10data.com] We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular[ncbi.nlm.nih.gov]

  • 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] The chin was receding and the mouth was pursed. The neck and chest were normal. The abdomen was protuberant with no visceromegaly.[annsaudimed.net]

  • Cornelia De Lange Syndrome

    The facial differences include thin, arched eyebrows; long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. M ...[hon.ch] With routine ultrasound, the receded chin may be seen on a profile of the face. Yet, this diagnosis is often missed during a routine ultrasound examination.[f1000research.com] Cornelia de Lange syndrome (CdLS) is a rare, congenital syndrome characterized by growth retardation, dysmorphic face, mental retardation and limb reduction defects.[ncbi.nlm.nih.gov]

  • Partial Trisomy 21

    A female patient with mild mental retardation with spatial perceptual difficulties, microcephaly, depressed nasal root, receding chin, webbed neck, low hairline, shield chest[ncbi.nlm.nih.gov] […] hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set[ncbi.nlm.nih.gov] CLINICAL EXAMINATION 1 - Dysmorphic syndrome associating (to various extend): evocative face : frequent microcephaly, short neck, flat occiput and brachycephaly; moon-shaped[atlasgeneticsoncology.org]

  • Robinow Syndrome

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Rhizomelia Disproportionately short upper portion of limb 0008905 Short neck Decreased length of neck 0000470[rarediseases.info.nih.gov] Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external[ncbi.nlm.nih.gov] Definition A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital[uniprot.org]

  • Pierre Robin Syndrome

    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] In addition to micrognathia, infants are born with a prominent occiput, microcephaly, low-set ears, and renal and cardiac defects.[consultant360.com] 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]

  • Psychomotor Retardation

    chin, brachydactyly, hypoplastic genitalia, and a normal karyotype.[icd10data.com] Head & neck High nasal bridge Hyper/hypo telorism Microphtalmia Mongoloid slant Occipital skull defect Small mandible Small or fish mouth(hard to open) Small or low set ears[slideshare.net] Dysmorphic face in two siblings with infantile neuroaxonal dystrophy . Genet Couns. 2002;13(4):465-73.[disorders.eyes.arizona.edu]

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