Phenotypes associated with the disease Bamforth-Lazarus syndrome (OMIM:241850):
- Cleft palate (HP:0000175): 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). Evidence: PCS. Frequency: 7/7. (PMID:24219130;PMID:12165566;PMID:9697705;PMID:35963604;PMID:16882747)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 7/7. (PMID:24219130;PMID:12165566;PMID:9697705;PMID:35963604;PMID:16882747)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. (OMIM:241850)
- Choanal atresia (HP:0000453): 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. Evidence: PCS. Frequency: 2/4. (PMID:24219130;PMID:12165566;PMID:16882747)
- Decreased circulating T4 concentration (HP:0031507): A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). Evidence: PCS. Frequency: 5/5. (PMID:12165566;PMID:9697705;PMID:16882747)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 1/1. (PMID:12165566)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 2/2. (PMID:24219130;PMID:35963604)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/4. (PMID:12165566;PMID:9697705;PMID:35963604)
- Decreased circulating thyroglobulin concentration (HP:6000244): The concentration of thyroglobulin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:16882747)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: PCS. Frequency: 1/1. (PMID:24219130)
- Bifid epiglottis (HP:0010564): A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. Evidence: PCS. Frequency: 2/7. (PMID:24219130;PMID:12165566;PMID:9697705;PMID:35963604;PMID:16882747)
- Anti-thyroid antibody positivity (HP:0430050): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid. Evidence: PCS. Frequency: 0/2. (PMID:12165566;PMID:35963604)
- Thyroid agenesis (HP:0008191): The congenital absence of the thyroid gland. Evidence: PCS. Frequency: 8/9. (PMID:24219130;PMID:12165566;PMID:9697705;PMID:35963604;PMID:16882747)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 1/1. (PMID:12165566)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:9697705)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:12165566;PMID:16882747)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 7/7. (PMID:24219130;PMID:12165566;PMID:9697705;PMID:35963604;PMID:16882747)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: PCS. Frequency: 2/2. (PMID:9697705)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 1/7. (PMID:24219130;PMID:12165566;PMID:9697705;PMID:35963604;PMID:16882747)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: PCS. Frequency: 2/7. (PMID:24219130;PMID:12165566;PMID:9697705;PMID:35963604;PMID:16882747)
- Bilateral choanal atresia (HP:0004502): Bilateral absence (atresia) of the posterior nasal aperture (choana). Evidence: PCS. Frequency: 2/2. (PMID:9697705)