<unk><unk>  is congenital, being apparent at birth. It is characterized by a feature known as<unk><unk> . Observed and noted in the initial description of the<unk>  as a cleft lip and palate,<unk><unk>  is identified by clefts in the bones, muscles and tissues of the face, including the lips and palate. The forms of cleft lip and palate typically seen with<unk><unk>  are midline (down the middle of the lip and palate) or bilateral (affecting both sides of the mouth and palate).<unk><unk>  generally encompasses a wide range of severity, ranging from minor anomalies such as a bifid (split) uvula, to a cleft lip and palate, to major developmental and structural defects of the<unk>  bones and soft tissues.<unk>  of the lip and palate occurs during embryogenesis. Additional<unk>  and ortho-dental anomalies that have been described with the<unk>  include: hypertelorism (unusually wide-set eyes, sometimes reported as telecanthus), narrow palpebral fissures (the separation between the upper and lower eyelids) and ptosis (drooping) of the eyelids, frontal bossing (prominent eyebrow ridge) with synophris, highly arched eyebrows, wide nasal root and a flattened nasal tip, malar hypoplasia (underdeveloped upper cheek bone), micrognathia (an undersized lower jaw), and prominent incisors. Auditory anomalies include an enlarged ear ridge, and hearing impairment associated with congenital otitis media (or "glue ear", inflammation of the middle ear) and sensorineural hearing loss. Another feature identified with<unk><unk>  is a caudal appendage. A caudal appendage is a congenital outgrowth stemming from the coccyx (tailbone). Present in many non-human animal species as a typical tail, this feature when seen in an infant has been described as a "human tail". This was observed by Guion-Almeida (1995) in three individuals from Brazil. The appendage on X-rays variously appeared as a prominent protrusion of the coccyx. On a physical examination, the appendage resembles a nodule-like stub of an animal tail. Deficiencies such as mental retardation, learning disability, growth retardation and developmental delay are common. Psychiatric manifestations that have been reported with the<unk>  include psychotic behavior, obsessive–compulsive disorder, loss of inhibition, hyperactivity, aggression, fear of physical contact, and compulsive actions like echolalia (repeating the words spoken by another person). Neuromuscular tics have also been noted. Urogenital abnormalities, or those affecting the urinary and reproductive systems, are common with the<unk> .<unk>  et al. (1983) and Kerstjens-Frederikse et al. (2005) reported variously in affected males a micropenis, hypospadias (a congenital mislocation of the urinary meatus), cryptorchidism (ectopic or undescended testes), bifid (split) and underdeveloped scrotum, and an obstructive urethral valve. An affected boy was also reported by Reardon et al. (2001) with left renal agenesis, an enlarged and downwardly displaced right kidney, cryptorchidism and a shawl scrotum. Other malformations that have been noted with the<unk>  are omphalocele and an umbilical hernia. Diagram of a neonatal heart affected by PDA Congenital abnormalities of the heart have also been observed with<unk><unk> . From a healthy Japanese couple, Chinen and Naritomi (1995) described the sixth child who had features consistent with the disorder. This two-month-old male infant was also affected by cardiac anomalies including patent ductus arteriosus (PDA) and ventricular septal defect. The opening in the ductus arteriosus associated with PDA had been surgically repaired in the infant at 38 days of age. A number of minor skeletal aberrations were also reported in the infant, including wormian bones at the lambdoid sutures.
Malpuech facial clefting syndrome
Nager acrofacial dysostosis
Branchio-oculo-facial syndrome
Otofacial syndrome
Liber pantegni
Cleft Lip and Palate Association
Ablepharon macrostomia syndrome
Urofacial syndrome