Prominent and beaked nose, hypoplasia of the maxilla, low-set ears, micrognathia, enamel hypoplasia, talon cusps, highly arched eyebrows and long eyelashes are the most common […] Various facial features, such as the underdeveloped jaw, beaked nose, low-set ears, and long eyelashes, are accompanied with broadening and angulation of thumbs, big toes,
syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set […] ears, small nose, depressed nasal bridge, protruding tongue, high-arched palate, dental abnormalities, and a short and broad neck.
Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth.
Velocardiofacial syndrome (VCFS), also known as digeorge syndrome or 22q11.2 syndrome, is a genetic disorder characterized by malformations in the pharyngeal arch derivatives including the thymus, parathyroid glands, and the conotruncal part of the heart. VCFS presents with a myriad of anomalies and clinical…
Hallermann syndrome is a congenital disease characterized mainly by facial and skull abnormalities. A short head, beak-like nose, malformed teeth, and cataracts are the distinctive symptoms. Intellectual disability is rare in this medical ailment. Hallermann syndrome (HS) or Hallermann-Streiff syndrome (also called…
Trisomy 18 (Edwards syndrome) is a chromosomal abnormality. It is characterized growth retardation, microcephaly, microphthalmia, ocular hypertelorism, ptosis, microstomia, distinctively clenched fingers and other congenital malformations. In utero, the patients present with heart defects, central nervous system…
Homocystinuria is an autosomal recessive metabolic disease characterized by elevated levels of homocysteine. The most common genetic mutation involved in the disease targets cystathionine beta-synthase, an enzyme that catalyzes the conversion of methionine into cysteine. Patients with homocystinuria can present…
CHARGE syndrome is characterized by the association of coloboma, heart anomalies, choanal atresia, retardation of growth and development, genital and ear anomalies. Patients with CHARGE syndrome are usually identified in infancy or early childhood when multiple congenital anomalies are found. Many of these defects…
Mandibulofacial dysostosis is a genetic condition which features multiple phenotypical abnormalities in facial characteristics derived from the first pharyngeal arch. The main malformations include hypoplastic zygomas, an underdeveloped jaw, abnormally large mouth and a downwards-tilting rima palpebrarum, accompanied by…
Smith-Magenis syndrome is a developmental disorder which affects several organs and systems of the body. As previously stated, SMS signs might be very variable, especially in later life stages. Thus, each case might show a different clinical presentation and family members of affected children should discuss the…