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Condition Info
ConditionName
Pitt-Hopkins Syndrome
ConditionDescription
Symptoms
Muscle tone and motor development Hypotonia (floppiness in infancy) Delayed motor milestones (sitting, walking) Need for bracing due to loose ankles Some children may never walk Unsteady gait, wide-based walking Lack of coordination (ataxia), clumsiness Speech and communication Severe speech delay Some can say a few words; many are nonverbal Better receptive language skills than expressive Benefit from assistive communication devices (picture boards, tablets) Some can learn sign language Cognitive and intellectual development Moderate to severe intellectual disability Difficult to assess due to speech and motor issues Some children may have higher cognitive abilities than reported Facial and physical features Wide mouth with full lower lip Widely spaced teeth Flared nostrils, broad nasal bridge Sharp, downturned nasal tip Mildly cup-shaped ears Deep-set eyes with upward slant and prominent supraorbital ridge Cupid’s bow upper lip, full cheeks Prominent lower face and chin Features may become more pronounced with age Breathing abnormalities Episodes of rapid breathing (hyperventilation) Periods of breath-holding or apnea crises Cyanosis (bluish skin due to lack of oxygen) Triggered by stress, emotions, or fatigue Typically absent during sleep Onset varies (7 months to 7 years) Behavioral traits Sociable and happy disposition Frequent laughing and smiling (sometimes inappropriate) Some children may be quiet or withdrawn Episodes of aggression, shouting, agitation Hyperactivity, anxiety, self-injury, shyness Stereotypic hand movements: Hand clapping, flapping, flicking, washing, finger crossing Frequent hand-to-mouth movements Head shaking, head banging, body rocking Teeth grinding (bruxism), hair pulling Repetitive toy play, fixation on specific objects Seizures and neurological issues Occur in nearly half of affected individuals Onset varies (birth to teenage years) Gastrointestinal issues Chronic constipation (often severe) Gastroesophageal reflux (reported in some cases) Pain sensitivity High pain threshold Other medical conditions Excessive drooling (especially in young children) Severe nearsightedness (myopia) Crossed eyes (strabismus) Astigmatism (abnormal curvature of the eye lens) Scoliosis (curved spine, in some cases) Cryptorchidism (undescended testicles in males) Hand and foot abnormalities Broad fingertips, tapered fingers, curved pinkies (clinodactyly) Single crease across the palm Prominent fetal pads on fingertips and toes Extra crease or absent crease on the thumb Some individuals cannot bend the thumb (absent tendon) Redness and swelling at nail bases Nail clubbing (blunted nail angle) Overriding toes Hands and feet may appear cold or bluish due to cyanosis
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WebLink
https://rarediseases.org/rare-diseases/pitt-hopkins-syndrome/
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