Total 8 clinical symptoms reported for Bamforth-Lazarus syndrome
Abnormal hair quantity |
An abnormal amount of hair.
Synonyms:Abnormal hair quantity; Abnormality of hair density |
Very frequent |
Choanal atresia |
Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
Synonyms:Blockage of the rear opening of the nasal cavity |
Very frequent |
Cleft palate |
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Synonyms:Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis |
Very frequent |
Congenital hypothyroidism |
A type of hypothyroidism with congenital onset.
Synonyms:Hypothyroidism, congenital; Underactive thyroid gland from birth |
Very frequent |
Intellectual disability |
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
Polyhydramnios |
The presence of excess amniotic fluid in the uterus during pregnancy.
Synonyms:High levels of amniotic fluid; Hydramnios |
Very frequent |
Retrognathia |
An abnormality in which the mandible is mislocalised posteriorly.
Synonyms:Lower jaw retrognathia; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Weak chin; Weak jaw |
Very frequent |
Thyroid agenesis |
The congenital absence of the thyroid gland.
|
Very frequent |