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    Pierre Robin Sequence Professional

    The typical features of PRS are: Micrognathia or retrognathia (small or retracted mandible). Cleft palate (classically U-shaped but V-shaped may occur, usually without cleft lip).

    Moebius Syndrome Professional

    Most cases are sporadic mutations, but an autosomal dominant transmission has been described (chromosome 13). [ 1 ] Risk factors Misoprostol, ergotamine, and chorionic villus sampling have be...

    Treacher Collins' Syndrome Professional

    It is suspected to be a ribosomopathy, where a genetic abnormality causes impaired ribosome biogenesis and function, resulting in a specific clinical phenotype. [ 4 ] Epidemiology Incidence is ...

    Cri du Chat Syndrome Conditions

    Features in the baby's head may include a small head (microcephaly), small jaw (micrognathia) and wide-set eyes. Abnormal features in the face also include downward slant to the eyes, ...

    Arthrogryposis Multiplex Congenita Professional

    Deformities of face and jaw (including asymmetry, flat nasal bridge, haemangiomata, micrognathia and trismus). Scoliosis, genital deformity and umbilical or inguinal herniae are common.

    Klippel-Feil Syndrome Professional

    NB : Careful pre-operative examination and preparation for difficult airway management are important for these patients, especially those with micrognathia [ 4 ] . Prognosis The prognos...

    TAR Syndrome Professional

    Head and neck - intracranial bleed, learning difficulties, cerebellar hypoplasia , brachycephaly , micrognathia , squint , ptosis , small upturned nose, naevus flammeus on forehead. ...

    Rubinstein-Taybi Syndrome Professional

    Specific growth charts for monitoring growth in individuals with RSTS have now been developed. [ 6 ] Facial features: low frontal hairline, arched thick eyebrows, downslanting palpebral fissures, ...

    Obesity Hypoventilation Syndrome Professional

    The head, ears, nose and throat should be examined to exclude facial dysmorphologies or ENT abnormalities that may cause upper airway obstruction, such as macroglossia, micrognathia, retrogna...

    Autosomal Recessive Polycystic Kidney Disease Professional

    Other clinical findings resulting from oligohydramnios include Potter's facies (flattened nose, micrognathia and large, floppy, low-set ears) and club foot. Approximately 75% of cases ...

    Cornelia De Lange Syndrome Professional

    In one series, 68% of cases with major abnormalities were not detected by this method. [ 5 ] However, careful observation for typical features such as diaphragmatic hernia, cystic hygroma or a right h...

    Cri du Chat Syndrome Professional

    Down-slanting palpebral fissures (downward slant to the eyes). Micrognathia. Low-set ears that may be malformed. Skin tags just in front of the ear. Syndactyly (partial webbing or...

    Fetal Alcohol Syndrome Professional

    Retrognathia in infancy, micrognathia or relative prognathism in adolescence and a low nasal bridge. Microphthalmia, strabismus , ptosis and short palpebral fissures.

    Edwards' Syndrome (Trisomy 18) Professional

    Craniofacial abnormalities: Low-set and malformed ears. Micrognathia (small jaw). Prominent occiput and dolichocephaly. Small facial features - eg, microphthalmia, microstomia.

    Faltering Growth in Children Professional

    Physical problems of feeding may occur with cleft palate , hypotonia , micrognathia and Prader-Willi syndrome . Poor absorption or metabolism of nutrients occurs with: Gastrointes...

    Hypoparathyroidism Professional

    Abnormal facies: cleft palate, micrognathia, ear abnormalities. Familial autoimmune polyglandular syndrome type I (APS-I): Chronic mucocutaneous candidiasis.

    Obstructive Sleep Apnoea Syndrome Professional

    Certain craniofacial or pharyngeal abnormalities are associated with OSAS - eg, retrognathia, micrognathia, enlarged tonsils, macroglossia, thickening or lengthening of the soft palate or uvu...

    Turner Syndrome Professional

    Mouth - micrognathia, high palate and mandible abnormalities can result in crowding of teeth and malocclusion.

    Epilepsy and Pregnancy Professional

    Associated features include tall/broad forehead, trigonocephaly (premature fusion of the metopic suture, leading to a triangular-shaped forehead), medial deficiency of eyebrows, infraorbital grooves, ...