Short broad great toe macrocranium: Another name for Collins-Sakati syndrome (or close medical condition association). Collins-Sakati syndrome: A very rare syndrome characterized mainly by a short, broad toe and a large head.
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) is a condition in which the body cannot oxidize fatty acids because an enzyme is either missing or not functioning correctly.
Main name of condition: Wegmann Jones Smith syndrome Other names or spellings for Wegmann Jones Smith syndrome: Short limb dwarf, oedema, iris coloboma, Short limb dwarf, edema, iris coloboma. Wegmann Jones Smith syndrome: A syndrome which is characterised by the occurrence of short limbs, oedema and iris coloboma.
Main name of condition: Colavita-Kozlowski syndrome Other names or spellings for Colavita-Kozlowski syndrome: Short limb dwarf lethal Colavita Kozlowski type. Colavita-Kozlowski syndrome: A very rare syndrome characterized by dwarfism and resulting in death at birth or in the weeks following birth.
Short limb dwarf lethal, Mcalister Crane type: A very rare syndrome characterized mainly by short arms and legs and resulting in stillbirth or infant death.
Short limb dwarfism, Al Gazali type: A very rare lethal disorder involving severe limb shortening and other skeletal deformities.
Short limbs - abnormal face - congenital heart disease: A very rare syndrome characterized by the association of short arms and legs, an abnormal facial appearance and congenital heart disease. Limb shortening tends to affects the arms more than the legs.
Short limbs subluxed knees cleft palate: A rare syndrome characterized mainly by short limbs, partially dislocated knees and a cleft palate.
Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
Short rib syndrome, Beemer type: Another name for Beemer-Langer syndrome (or close medical condition association). Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.
Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
Short rib-polydactyly syndrome, Saldino-Noonan type: A rare genetic disorder characterized by short stature, bone formation abnormalities, heart defects and other deformities.
Short rib-polydactyly syndrome, Verma-Naumoff type: A rare lethal syndrome characterized by abnormal skeleton formation resulting in extra digits, short ribs, short limbs and genital anomalies.
Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
Short stature - abnormal skin pigmentation - mental retardation: A very rare syndrome characterized mainly by short stature, mental retardation and skin pigmentation abnormalities.
Short stature and locking fingers: Another name for Eng Strom syndrome (or close medical condition association). Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
Short stature - contractures - hypotonia: A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures.
Short stature - cranial hyperostosis - hepatomegaly: A very rare syndrome characterized mainly by a thickened skull, short stature and an enlarged liver.
Short stature - dysmorphic face - pelvic scapula dysplasia: A very rare disorder characterized mainly by unusual facial appearance, short stature and abnormality development of the pelvis and shoulder blade.
Short stature - hyperkaliemia - acidosis: A very rare syndrome characterized mainly by short stature and metabolic abnormality.
Short stature mental retardation eye anomalies: A very rare syndrome characterized mainly by short stature, mental retardation and eye defects.
Main name of condition: Short stature mental retardation eye anomalies Other names or spellings for Short stature mental retardation eye anomalies: Dwarfism mental retardation eye abnormality, dwarfism, mental retardation, and eye abnormality, Short stature [mental retardation - eye defects], Mollica-Pavone-Antener syndrome, Short stature, mental retardation and ocular alterations, Mollica syndrome Short stature mental retardation eye anomalies: A very rare syndrome characterized mainly by short stature, mental retardation and eye defects.
Short stature - microcephaly - seizures - deafness: A very rare syndrome characterized by the association of short stature, small head, seizures and deafness.
Short stature - monodactylous - ectrodactyly - cleft palate: A very rare syndrome characterized mainly by short stature, missing fingers and a cleft palate.
Short stature - prognathism - short femoral necks: A very rare syndrome characterized mainly by short stature, protruding jaw and a hip anomaly.
Short stature - Robin sequence - cleft mandible - hand anomalies - clubfoot: A very rare syndrome characterized mainly by short stature, a cleft in the lower jaw, hand anomalies, club foot and mouth abnormalities (Robin sequence).
Short stature, Brussels type: A very rare syndrome characterized mainly by short stature.
Short stature - talipes - natal teeth: A very rare syndrome characterized mainly by short stature, early tooth eruption, and a foot deformity (talipes).
Short stature - valvular heart disease: A very rare syndrome characterized mainly by short stature and heart valve disease.