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1,083 Possible Causes for Dysmorphic Face

  • Mohr Syndrome

    Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[symptoma.com] A clinical diagnosis of OFD1 was made, based on the characteristic dysmorphic features of the mouth, face and limbs.[jofs.in]

  • Smith Lemli Opitz Syndrome

    We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] The clinical examination at 4 months of age showed growth failure, dysmorphic face, bilateral ptosis and epicantus, generalized muscle hypotony, asymmetrical polydactyly ([endocrine-abstracts.org]

  • Congenital Hypothyroidism

    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] Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes.[ncbi.nlm.nih.gov]

  • Thanatophoric Dysplasia

    Physical examination revealed a large head with a prominent forehead in a cloverleaf shape, a dysmorphic face with a flat nose and very small extremities ( Figure 2 ).[omicsonline.org]

  • Williams Syndrome

    It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[ncbi.nlm.nih.gov] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[ncbi.nlm.nih.gov] The authors report a female presenting with congenital heart defects, liver hemangiomas, and facial dysmorphisms admitted to hospital at 3 months of age because of feeding[ncbi.nlm.nih.gov]

  • Cleidocranial Dysplasia

    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] Physical examinations showed that he was short in stature (height, 164.4 cm; weight, 79.1 kg) with a dysmorphic face, including hypertelorism, midface hypoplasia, and chin[ncbi.nlm.nih.gov]

  • Trisomy 9

    A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect.[ncbi.nlm.nih.gov] Dysmorphisms in the heart , kidneys , and musculoskeletal system may also occur.[en.wikipedia.org] An infant with complete trisomy 9 surviving 20 days after birth showed clinical features including a small face, wide fontanelle , prominent occiput , micrognathia , low set[en.wikipedia.org]

  • Seckel Syndrome

    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] A 1-day-old female newborn was admitted with dysmorphic features and feeding difficulties. The parents were consanguineous.[pediatricneurologybriefs.com] Seckel syndrome is a rare autosomal recessive disorder characterized by prenatal and postnatal growth retardation, microcephaly, and “bird-like” face with prominent, beak-like[pediatricneurologybriefs.com]

  • Kniest Dysplasia

    Both have dysmorphic faces, while myopia and cleft palate may be present.[raredisorders.imedpub.com] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”? .[nature.com] A: A dysmorphic face with hypertelorism and a flattened nasal bridge. B, C: Short stature.[raredisorders.imedpub.com]

  • Robinow Syndrome

    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]

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