Robinow syndrome (RS) is a rare type of syndrome of short stature with predominent mesomelic shortening. It was first described by Robinow et al. (1969) in a family with several individuals showing an autosomal dominant inheritance pattern. The characteristic are peculiar facies including broad forehead, midface hypoplasia, hypertelorism, short upturned nose, and a broad mouth, known collectively as 'fetal facies', mesomelic limb shortening, hypoplastic genitalia, hydronephrosis, urinary tract infections, skeletal and vertebral anomalies.
Macrocephaly, large anterior fontanelle, delayed closure of fontanelle, prominent eyes, crowding of teeth, bifid tongue, absent uvula, pectus and rib abnormalities are other features.
Cardiac, renal and genital anomalies may also be seen. One case with hydrocephalus is described.
Abnormalities of external genitalia include micropenis, hypoplastic labia and clitoris. Both puberty and fertility are normal and affected females can carry pregnancies to term.
Cognitive function is usually normal but developmental delay and intellectual disabilities may be seen in a few cases.
In addition to thoracic hemivertebrae, short neck, scoliosis, increased lumber lordosis, hypoplastic sacrum are the other abnormalities of spine. A family with homozygous frameshift mutation with severe scoliosis and transverse limb reduction abnormality is described.
Mesomelia is seen but may be subtle and there may be abnormalities of pronation and supination.
Small hands and brachydactyly with hypoplastic nails are the characteristic features. Short broad toes and bifid distal phalanges are described.
It is a genetically heterogeneous disorder with ROR2 causing autosomal recessive (AR) type. Presence of scoliosis and hemivertebrae is more commonly seen in AR type and umbilical hernia is seen in AD type.
ROR2