Presentation
Entire Body System
- 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]
Liver, Gall & Pancreas
- 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
- 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
- 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
- Suggestibility
It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus syndrome. [malacards.org]
Face, Head & Neck
- 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]
- 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
- 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]