Autosomal recessive inheritance. Lethal dwarfism identifiable at birth.

Synopsis

 ocular anomalies (#7126521#)

• bilateral ocular agenesis

 median cleft lip
 cleft palate
 hypoplastic epiglottis
 malformed larynx

 thoracic anomalies

• short ribs
• narrow thorax
• pulmonary hypoplasia

 gastrointestinal atresia
 gallbladder agenesis
 ascitis
 ambiguous genitalia
 genitourinary atresia

 renal anomalies

• polycystic kidneys
• glomerular cysts and renal tubular cysts

 limb anomalies

• postaxial polydactyly
• preaxial polydactyly
• micromelia
• hallucal and postaxial polysyndactyly of the feet
• hypoplastic cerebellar vermis
• hydrops fetalis
• deficient vertebral ossification
• metaphyseal dysplasia
• disproportionate shortening of the tibia
• normal pelvis
• markedly stunted and disorganized endochondral ossification

 cerebral anomalies

• anencephaly (#8267012#)
• pachygyria
• cerebral hemisphere cystic mass

See also

 short rib-polydactyly syndromes (SRPSs)

• SRPS1 (Saldino-Noonan)
• SRPS2 (Majewski)
• SRPS3 (Naumoff)
• SRPS4

References

 Majewski F, Pfeiffer RA, Lenz W, Muller R, Feil G, Seiler R (1971): Polydactyly, short limbs, and genital malformations - a new syndrome? Z Kinderheilkd 111: 118-138.