Disease Information for Borjeson-Forssman-Lehmann Syn/BFLS (xq26.3): Clinical Manifestations

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Signs & Symptoms
Adolescent
Hyperextensable Joints Infant
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Deep-Set Eyes
Facial edema/swelling
Facies particular
Heavy facial features
Prominent supraorbital ridges
Round face
Breast Swelling Bilateral
Dermatoglyphic anomalies
Delayed adolescence/secondary sex changes
Genital Hypoplasia/Male
Penis, small (Micropenis)
Small/soft testes
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Short Toes
Tapering Slender Extremities
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Mental Deficiency Child
Moro reflex Poor/Absent Infant
Nystagmus
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Seizures
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Long thin fingers/toes (arachnodactyly)
Wide spaced toes/flexed
Central obesity/sign
Coarsened facial features
Dysmorphic appearance/face
Short stature
Narrow Palpebral Fissures
Ptosis (blepharoptosis)
Big ears
Prominent Ears
True Vertigo Sign Confirmed
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
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