has material basis in germline mutation in SPECC1L Teebi hypertelorism syndrome Teebi hypertelorism syndrome 1 A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes. OMIM:145420 hypertelorism, Teebi type Teebi hypertelorism syndrome Brachycephalofrontonasal dysplasia SCTID:724284005 craniofrontonasal dysplasia, Teebi type MONDO:0800025 GARD:0000957 Orphanet:1519 Teebi syndrome DOID:0080698