short rib-polydactyly syndrome type 1

SRPS1, like SRPS2, is a lethal condition in the newborn period or autosomal recessive inheritance. The infant has a hydropic appearance, postaxial polydactyly, severely shortened and flipper-like limbs, and striking metaphyseal dysplasia of tubular bones.

Ossification is defective in the calvaria, vertebrae, pelvis, and bones of the hands and feet. The tubular bones are short, with marked metaphyseal irregularities.

The pelvis resembles that in the Ellis-van Creveld syndrome and asphyxiating thoracic dystrophy, with small ilia and osseous spurs projecting medially and laterally from the acetabular roofs.

As in SRPS2, polycystic kidneys, transposition of great vessels, and atretic lesions of the gastrointestinal and genitourinary systems occur.

SRPSs

Short rib-polydactyly syndromes are a descriptive category for a group of lethal skeletal dysplasias characterized by a hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities. The 4 established variants are SRPS I (Saldino-Noonan type), SRPS II (Majewski type; MIM.263520), SRPS III (Verma-Naumoff type; MIM.263510), and SRPS IV (Beemer-Langer type; MIM.269860). All of the variants are thought to be inherited in an autosomal recessive pattern. Because of the frequent phenotypic overlap, however, there is controversy as to whether the variants are due to variable expression or to genetic heterogeneity. (12210298)

Synopsis

 hydrops fetalis

• ascites

 oral anomalies (6402845)

• anterior maxillary and mandibular fornices and the central labial frenula absent
• large tongue
• absence of sulcus terminalis and vallate and foliate papillae
• abnormal tooth anlagen
• small tooth buds

 skeletal dysplasia

• lethal dwarfism identifiable at birth
• short ribs
• hypoplastic thorax
• narrow thorax
• severe micromelia (short limbs)
• deficient ossification of calvaria, vertebrae, pelvis, and bones of the hands and feet
• metaphyseal dysplasia
• small ilia
• osseous acetabular spurs

 laryngeal anomalies (2348734)

• epiglottic hypoplasia (2348734)

 cardiovascular malformations

• transposition of great vessels

 digestive anomalies

• gastrointestinal atresia
• anorectal malformations
• pancreatic dysplasia (12921311)
• pancreatic cysts (12921311)
• omphalomesenteric cyst (12921311)
• digestive malrotation (12921311)

 genitourinary malformations

• genitourinary atresia
• bilateral non-obstructive multicystic renal dysplasia (BNOMRD) (12921311)
• micropenis (12921311)
• undescended testes (12921311)
• bilateral inguinal hernia (12921311)

 postaxial polydactyly
 single umbilical artery (15083709)

See also

 short rib-polydactyly syndromes (SRPSs)

• SRPS1 (Saldino-Noonan type) (MIM.263530)
• SRPS2 (Majewski type (MIM.263520)
• SRPS3 (Verma-Naumoff type) (MIM.263510)
• SRPS4 (Beemer-Langer type) (MIM.269860)

References

 Verma A.Short rib polydactyly syndrome type I (Saldino-Noonan syndrome).Indian Pediatr. 2005 Apr;42(4):389. PMID: 15876604 (free access)

 Balci S, Altinok G, Tekşen F, Eryilmaz M.A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts.Turk J Pediatr. 2003 Apr-Jun;45(2):174-8. PMID: 12921311

 Malhotra N, Sood M.Recurrence of short rib polydactyly syndrome - a rare skeletal dysplasia.Eur J Obstet Gynecol Reprod Biol. 2000 Apr;89(2):193-5. PMID: 10725582

 Erzen M, Stanescu R, Stanescu V, Maroteaux P.Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia.Ann Genet. 1988;31(3):144-50. PMID: 2464965

 Strømme Koppang H, Boman H, Hoel PS.Oral abnormalities in the Saldino-Noonan syndrome.Virchows Arch A Pathol Anat Histopathol. 1983;398(3):247-62. PMID: 6402845

 Saldino RM, Noonan CD (1972): Sever thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Am J Roentgenol 114: 257-263.