Presentation
Some may also present with choanal atresia and bifid epiglottis Facial dysmorphism, consisting of microcephaly, hypertelorism, anteverted nares, narrow nasal bridge, low-set ears, small jaw and retrognathia, has been reported in one case. [dovemed.com]
Acronym BLS Synonyms Athyroidal hypothyroidism with spiky hair and cleft palate Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Some may also present with choanal atresia and bifid epiglottis. Facial dysmorphism, consisting of microcephaly, hypertelorism, anteverted nares, narrow nasal bridge, low-set ears, small jaw and retrognathia, has been reported in one case. [rarediseases.info.nih.gov]
Entire Body System
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Poor Feeding
Clinical description The syndrome is typically observed at birth with cleft palate, spiky hair and thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled [rarediseases.info.nih.gov]
Facial dysmorphism and porencephaly have been reported in isolated cases Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or [dovemed.com]
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Surgical Procedure
Surgical procedures for cleft palate (maxillo-facial reconstruction and plastic surgery) and choanal atresia (surgery to reopen the nasal passages) should be discussed in a specialized health center. Speech therapy may also be required. [rarediseases.info.nih.gov]
In neonates born with hyperbilirubinemia, phototherapy is often effective Surgical procedures for cleft palate (maxillo-facial reconstruction and plastic surgery) and choanal atresia (surgery to reopen the nasal passages) should be discussed in a specialized [dovemed.com]
Liver, Gall & Pancreas
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Jaundice
The syndrome is typically observed at birth with cleft palate, spiky hair and thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice [rarediseases.info.nih.gov]
[…] porencephaly have been reported in isolated cases Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice [dovemed.com]
Jaw & Teeth
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Macroglossia
Clinical description The syndrome is typically observed at birth with cleft palate, spiky hair and thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled [rarediseases.info.nih.gov]
Facial dysmorphism and porencephaly have been reported in isolated cases Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or [dovemed.com]
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Macroglossia
Clinical description The syndrome is typically observed at birth with cleft palate, spiky hair and thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled [rarediseases.info.nih.gov]
Facial dysmorphism and porencephaly have been reported in isolated cases Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or [dovemed.com]
Ears
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Low Set Ears
Facial dysmorphism, consisting of microcephaly, hypertelorism, anteverted nares, narrow nasal bridge, low-set ears, small jaw and retrognathia, has been reported in one case. Porencephaly was also recently described in one case. [rarediseases.info.nih.gov]
Some may also present with choanal atresia and bifid epiglottis Facial dysmorphism, consisting of microcephaly, hypertelorism, anteverted nares, narrow nasal bridge, low-set ears, small jaw and retrognathia, has been reported in one case. [dovemed.com]
Psychiatrical
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Suggestibility
It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus syndrome. [malacards.org]
Face, Head & Neck
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Hypertelorism
Facial dysmorphism, consisting of microcephaly, hypertelorism, anteverted nares, narrow nasal bridge, low-set ears, small jaw and retrognathia, has been reported in one case. Porencephaly was also recently described in one case. [rarediseases.info.nih.gov]
Some may also present with choanal atresia and bifid epiglottis Facial dysmorphism, consisting of microcephaly, hypertelorism, anteverted nares, narrow nasal bridge, low-set ears, small jaw and retrognathia, has been reported in one case. [dovemed.com]
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Narrow Nose
Other common symptoms include choana astresia (a narrow nose airway making it harder to breath), bifid epiglottis (a problem with cartilage in your throat that often leads to airway obstruction), and intellectual disability. [diseaseinfosearch.org]
Neurologic
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Lethargy
Clinical description The syndrome is typically observed at birth with cleft palate, spiky hair and thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled [rarediseases.info.nih.gov]
Facial dysmorphism and porencephaly have been reported in isolated cases Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or [dovemed.com]
Treatment
Management and treatment Thyroid hormone replacement therapy is the standard treatment for those with Bamforth-Lazarus syndrome and should be started as soon as possible. [rarediseases.info.nih.gov]
The complications of Bamforth-Lazarus Syndrome may include: Intellectual deficit Hormonal imbalances from an early age Speech impairment Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]
Treatment usually includes thyroid hormone replacement therapy and surgery. Most children with this condition can have normal physical and pubertal development if appropriate treatment is given. [diseaseinfosearch.org]
Prognosis
Prognosis With proper treatment adherence the prognosis is good and children can have normal physical growth, pubertal development, and anterior pituitary function. [rarediseases.info.nih.gov]
(July 2017) Prognosis[edit] There is no cure for this syndrome. Treatment is supportive and symptomatic. [en.wikipedia.org]
Etiology
"Perspective: genetic defects in the etiology of congenital hypothyroidism". Endocrinology. 143 (6): 2019–24. doi:10.1210/en.143.6.2019. PMID 12021164. Venza I, Visalli M, Parrillo L, De Felice M, Teti D, Venza M (March 2011). [en.wikipedia.org]
Etiology Bamforth-Lazarus syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1gene (9q22), encoding thyroid transcription factor 2 (TTF-2). [rarediseases.info.nih.gov]
(Etiology) Bamforth-Lazarus Syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2) TTF-2 is expressed in the thyroid gland (as well [dovemed.com]
Epidemiology
Epidemiology Only 8 patients from 6 families have been reported to date. [rarediseases.info.nih.gov]
Prevention
How can Bamforth-Lazarus Syndrome be Prevented? Currently, Bamforth-Lazarus Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]
PREVENTION of down syndrome one out of every 800 children is born with down syndrome. Sufre de un síndrome psicosomático conocido como el síndrome morgellons. She's suffering from a psychosomatic condition known as morgellons syndrome. [tr-ex.me]