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]

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]

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]

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]

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]

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]

It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus syndrome. [malacards.org]

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]

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]

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]