Disease – Page 186 – CheckOrphan

Short rib-polydactyly syndrome- Saldino-Noonan type

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

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

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

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

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

Short stature - contractures - hypotonia: A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures.

Short stature cranial hyperostosis hepatomegaly

Short stature - cranial hyperostosis - hepatomegaly: A very rare syndrome characterized mainly by a thickened skull, short stature and an enlarged liver.

Short stature deafness neutrophil dysfunction

Short stature dysmorphic face pelvic scapula dysplasia

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

Short stature - hyperkaliemia - acidosis: A very rare syndrome characterized mainly by short stature and metabolic abnormality.

Short stature mental retardation eye anomalies

Short stature mental retardation eye anomalies: A very rare syndrome characterized mainly by short stature, mental retardation and eye defects.

Short stature mental retardation 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

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

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

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

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 syndrome- Brussels type

Short stature, Brussels type: A very rare syndrome characterized mainly by short stature.

Short stature talipes natal teeth

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

Short stature - valvular heart disease: A very rare syndrome characterized mainly by short stature and heart valve disease.

Short stature webbed neck heart disease

Unusual facies, short webbed neck, mental retardation, short stature: A rare syndrome characterized by an unusual facial appearance, short webbed neck, mental retardation and short stature.

Short stature wormian bones dextrocardia

Main name of condition: Stratton-Parker syndrome Other names or spellings for Stratton-Parker syndrome: Short stature [wormian bones - dextrocardia] . Stratton-Parker syndrome: A very rare syndrome characterized by short stature, heart positioned on the wrong side of the chest (dextrocardia) and a bone development anomaly.

Short stature- cranial hyperostosis- hepatomegaly and diabetes

Short stature, cranial hyperostosis, hepatomegaly and diabetes: A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull.

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome, also called SOFT syndrome, is a recently discoverd genetic disorder. SOFT syndrome is featuring severely short long bones, peculiar faces associated with paucity of hair, and nail anomalies.

SHORT syndrome

SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems. SHORT is an acronym for short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, rieger anomaly and teething delay. Short stature refers to any person who is significantly below the average height for a person of the same age and sex -- specifically, the shortest 3 - 5% of the population. The term often refers to children or adolescents who are significantly below the average height of their peers.

Short tarsus absence of lower eyelashes

Short tarsus - absence of lower eyelashes: A very rare syndrome characterized by a lack of lower eyelashes and short eyelids.

Shoulder and thorax deformity congenital heart disease

Shoulder and thorax deformity, congenital heart disease: A very rare syndrome characterized by shoulder and thorax abnormalities and congenital heart disease.

Shoulder girdle defect mental retardation familial

Shoulder girdle defect - mental retardation, familial: A very rare syndrome characterized mainly by mental retardation and a shoulder abnormality.

Shprintzen Golberg craniosynostosis

Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a disorder of the connective tissue, featuring craniosynostosis and marfanoid body type. SGS, also known as marfanoid craniosynostosis syndrome, is one of a group of disorders characterized by craniosynostosis and marfanoid body type. It is a condition that involves craniofacial, skeletal, and other abnormalities. SGS is caused by genetic mutations (changes affecting the structure and function of the gene) in a gene that contributes to the formation of connective tissue.

Shprintzen omphalocele syndrome

Shprintzen omphalocele syndrome: A rare syndrome characterized mainly by abnormal development of the pharynx and larynx which can result in a narrowed airway. Protrusion of intestines through the belly button also occurs. The voice is high pitched and spinal curvature and learning problems are other common symptoms.