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

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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