Syndromes affecting stature
16 entries in the Syndromes Affecting Stature compendium.
Ellis–Van Creveld syndromeA rare skeletal dysplasia with polydactyly and heart defects.Floating–Harbor syndromeRare genetic disorder with short stature, facial features, and speech delay.Gómez–López-Hernández syndromeRare neurocutaneous disorder with cerebellar and trigeminal malformations.Hallermann–Streiff syndromeRare congenital disorder affecting eyes, growth, and development.Kocher–Debre–Semelaigne syndromeRare childhood hypothyroidism with muscle hypertrophy and Herculean appearance.Langer–Giedion syndromeRare genetic disorder from chromosome 8 deletion.Tricho-rhino-phalangeal syndrome Type 1Rare genetic disorder with hair, nose, and finger abnormalities.Lujan–Fryns syndromeAn X-linked genetic disorder with intellectual disability and Marfanoid features.Nijmegen breakage syndromeRare autosomal recessive disorder causing chromosomal instability and cancer predisposition.Noonan syndromeGenetic disorder with distinctive facial features and heart defects.RAPADILINO syndromeRare genetic disorder with bone defects and increased cancer risk.Robinow syndromeRare genetic disorder causing dwarfism and distinctive facial features.Rothmund–Thomson syndromeRare genetic disorder with poikiloderma, cataracts, and cancer risk.Smith–Fineman–Myers syndromeX-linked congenital disorder causing skeletal, nervous, and intellectual impairments.Tatton-Brown–Rahman syndromeRare overgrowth and intellectual disability syndrome.Werner syndromeRare autosomal recessive disorder causing premature aging.
Browse Syndromes affecting stature in the interactive codex →