Autosomal recessive Robinow Syndrome is a rare disorder that tends to be more severe than the related disorder showing autosomal dominant inheritance.
Synonym: Fetal Face Syndrome
Gene affected: ROR2 (receptor tyrosine kinase-like orphan receptor 2)
Chromosome: 9q22.31
Inheritance: autosomal recessive
Craniofacial features:
(1) macrocephaly
(2) broad prominent forehead (frontal bossing)
(3) ocular hypertelorism
(4) prominent eyes
(5) downslanting palpebral fissures
(6) midface hypoplace
(7) low-set ears
(8) short, upturned nose
(9) depressed nasal bridge
(10) long philtrum
(11) large triangular mouth with downturned angles
(12) gum hypertrophy
(13) crowded teeth
(14) ankyloglossia
(15) micrognathia
(16) cleft lip and/or palate
Skeletal defects:
(1) short stature
(2) growth retardation
(3) mesomelic or acromesomelic limb shortening
(4) hemivertebrae with fusion of thoracic vertebrae
(5) brachydactyly and other finger anomalies
(6) fused or absent ribs
(7) scoliosis
(8) defects in radius and/or ulna
Other anomalies:
(1) small genitalia (micropenis with or without cryptorchidism in males, small clitoris and hypoplastic labia majora in females)
(2) anomalies urinary tract
(3) nail dystrophy and/or hypoplasia
(4) variable developmental delay, mental retardation or language difficulties
(5) pectus excavatum
(6) inguinal hernia
(7) cardiac defects
