Microcephaly Severe MR Dysmorphic facies Dry skin Sensorineural FTT Cockayne Prognathism Birth Early hearing loss Short stature syndrome Almost all Long limbs Renal Irregular menses AR None N Seizures N Congenital (ERCC6, fat lost hands/feet disease Hypogonadism Skin atrophy HTN Ataxia Pigmentary Joint contractures ERCC8) Alopecia Tremor retinopathy Kyphosis Weakness Death before 15y Dementia Face Large fontanels Alopecia Dysmorphic facies Distal Thin long bones Thin wrinkled Macrocephaly FTT Neonatal extremities with enlarged skin Prominent MR Short stature ↑T4 Progeroid AR Birth metaphyses N ↑TG Hypoplastic scalp veins Hypotonia Irregular menses Aged appearance Syndrome Loss of teeth ectasia nails Truncal ataxia Ectropion ±gluteal Joint contractures Phlebomegaly in childhood in palms mass ↓ ↓muscle Microcephaly MR AD Dysmorphic facies Tightly Joint contractures Hypertonia de Almost all FTT None adherent Scoliosis N N N Hyperreflexia N N syndrome fat lost Short stature facial skin Micrognathia Spastic (KCNJ6) Aged appearance tetraparesis Seizures
Cockayne syndrome (ERCC6, ERCC8) AR Birth Almost all fat lost None Dry skin Skin atrophy Alopecia Prognathism Long limbs hands/feet Joint contractures Kyphosis Early HTN N Renal disease Microcephaly Severe MR Sensorineural hearing loss Seizures Ataxia Tremor Weakness Dementia N Irregular menses Hypogonadism Dysmorphic facies FTT Short stature Congenital Pigmentary retinopathy Death before 15y Neonatal Progeroid Syndrome AR Birth Face Distal extremities ±gluteal ↓ in palms Alopecia Thin wrinkled skin Hypoplastic nails Phlebomegaly Large fontanels Thin long bones with enlarged metaphyses Loss of teeth Joint contractures ↓muscle mass Prominent scalp veins ↑TG ectasia Macrocephaly MR Hypotonia Truncal ataxia N ↑T4 Irregular menses Dysmorphic facies FTT Short stature Aged appearance Ectropion in childhood syndrome (KCNJ6) AD de Almost all fat lost None Tightly adherent facial skin Joint contractures Scoliosis Micrognathia N N N Microcephaly MR Hypertonia Hyperreflexia Spastic tetraparesis Seizures N N Dysmorphic facies FTT Short stature Aged appearance
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