Disease Information for Fragile X syndrome/X-linked retardation: Clinical Manifestations

Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Broad forehead/facies
Craniofacial Abnormalities/Congenital
Facies particular
Prominent chin
Prominent forehead/High forehead
Square facies
Thick lips
Dermatoglyphic anomalies
Dry brittle hair/Lank lifeless hair
Sparse hair distribution/Hypotrichosis
Enlarged testis/testes
Hyperpigmentation of the scrotum
Scrotal edema/swelling
Swelling of scrotum
Testicles enlarged/bilateral
Crowded teeth
Large/protruding jaw/prognathism
Rolling Over Delay Infant
Small hands
Autistic Features Secondary
Delayed speech/language development
Developmental milestones delayed
Echolalia/Copies speech/phrases
Hypereactive Child
Infant Seizures
Mental Deficiency Child
Compulsive self-mutilation
Emotional/affective lability
Interpersonal relationships/absent/flawed
Broad great toes
Dysmorphic dwarfism/short stature
Finger contractions/flexion (clinodactyly)
Hyperextensible joints Laxity Instability
Macrocephaly/Large head
Tall child
Delayed speech development/impediment
High-pitched voice
Dysmorphic appearance/face
Tall Adult
Epicanthal folds
Poor Eye contact child/infant
Anomalous ears/deformities
Anteverted ears
Big ears
Prominent Ears
Protruberant/lop ears
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only