Disease Information for Shprintzen-Goldberg craniosynostosis syndrome (15q21.1): Clinical Manifestations

Signs & Symptoms
Contractures Fingers/Toes
Hyperextensable Joints Infant
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facial Asymmetry
Facies particular
Narrow face/sign
Paucity of subcutaneous fat/signs
Enlarged testis/testes
Lax abdominal muscles
High arched palate
Receding chin deformity
Tongue Protrudes Infant
Central hypotonia, infants
Delay Sitting Unsupported Infant
Hyperextensible digits
Long arms
Long legs
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
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
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Progressive enlargement of Skull/infant
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Bowing of extremities
Cervical kyphosis sign
Cranial asymmetry
Hyperextensible joints Laxity Instability
Long thin fingers/toes (arachnodactyly)
Skull/tall/dolichiocephalic deformity/sign
Sternum deformities
Tall child
Dysmorphic appearance/face
Growth/development delay
Lateral Asymmetry
Tall Adult
Tall/thin habitus/long body/Marfanoid
Downward sloping eyes/Antimongoloid slant
Eyelid Retraction
Ptosis (blepharoptosis)
Anomalous ears/deformities
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder