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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.[] A clinical diagnosis of OFD1 was made, based on the characteristic dysmorphic features of the mouth, face and limbs.[]

  • 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[] The clinical examination at 4 months of age showed growth failure, dysmorphic face, bilateral ptosis and epicantus, generalized muscle hypotony, asymmetrical polydactyly ([]

  • Congenital Hypothyroidism

    Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects[] Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes.[]

  • 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 ).[]

  • Williams Syndrome

    It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[] 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[]

  • Cleidocranial Dysplasia

    The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[] 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[]

  • Trisomy 9

    A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect.[] Dysmorphisms in the heart , kidneys , and musculoskeletal system may also occur.[] 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[]

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

  • Kniest Dysplasia

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

  • Robinow Syndrome

    Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external[] Definition A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital[]

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