Short rib-polydactyly syndrome- Majewski type
Overview
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.
Symptoms
The list of signs and symptoms mentioned in various sources for Short rib-polydactyly syndrome, Majewski type includes the 31 symptoms listed below: * Short stature * Short limbs * Midline cleft lip * Cleft palate * Short flat nose * Low-set ears * Small ears * Malformed ears * Extra fingers * Extra toes * Brachydactyly * Short tibia * Oval shaped tibia * Short metacarpals * Short metatarsals * Rounded metacarpals * Rounded metatarsals * Premature ossification of proximal epiphyses of humeri * Premature ossification of proximal epiphyses of femora * Premature ossification of proximal epiphyses of lateral cuboids * Underossified phalanges * Narrow thorax * Short ribs * Horizontal ribs * High clavicles * Ambiguous genitalia * Underdeveloped epiglottis * Underdeveloped larynx * Multiple glomerular cysts * Focal dilatation of distal kidney tubules * Death always occurs soon after birth due to respiratory insufficiency Note that Short rib-polydactyly syndrome, Majewski type symptoms usually refers to various symptoms known to a patient, but the phrase Short rib-polydactyly syndrome, Majewski type signs may refer to those signs only noticable by a doctor.
Causes
Other Possible Causes of these Symptoms * Ambiguous genitalia * Brachydactyly * Cleft palate * Extra fingers * Extra toes * Low-set ears * Malformed ears * Short ribs * Short stature * Small ears
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Short rib-polydactyly syndrome, Majewski type. This medical information about signs and symptoms for Short rib-polydactyly syndrome, Majewski type has been gathered from various sources, may not be fully accurate, and may not be the full list of Short rib-polydactyly syndrome, Majewski type signs or Short rib-polydactyly syndrome, Majewski type symptoms. Furthermore, signs and symptoms of Short rib-polydactyly syndrome, Majewski type may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Short rib-polydactyly syndrome, Majewski type symptoms.