Carpal and tarsal synostoses are present. The average height of affected male adults was 152 cm. This medical entity is very similar to the mesomelia-synostosis syndrome. [accessanesthesiology.mhmedical.com]

MSS patients may present with complex congenital heart defects, congenital hydronephrosis, unusual skin coverage on the umbilical cord stump, myopia, short sublingual frenulum and progressive hearing loss. Cognitive development is normal. [orpha.net]

• Fishing

  Diagnostic methods Diagnosis is suspected on the basis of clinical and radiological findings and is confirmed by cytogenetic analysis (array CGH, FISH). [orpha.net]

• Short Stature

  First described in 1995 as a newly autosomal dominant inherited form of mesomelic shortness of stature by A Verloes and A David. Autosomal dominant; two families described. [accessanesthesiology.mhmedical.com]

  Both rhizomelic and mesomelic dysplasia and short stature may be encountered in the same patient [1]. [link.springer.com]

  David: Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis. In: American journal of medical genetics. [de.zxc.wiki]

  Benito-Sanz, S, Royo, JL, Barroso, E:Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet 2012;49(7):442–450. [journals.sagepub.com]

• Brachydactyly

  5th digit, narrow short feet, disproportionate brachydactyly of toes on the fibular side, and dysfunctional ankle joints. [orpha.net]

• Blepharoptosis

  Ptosis Drooping upper eyelid, Eye drop, Blepharoptosis, Eyelid ptosis [more] The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of [rarediseases.oscar.ncsu.edu]

• Progressive Hearing Loss

  MSS patients may present with complex congenital heart defects, congenital hydronephrosis, unusual skin coverage on the umbilical cord stump, myopia, short sublingual frenulum and progressive hearing loss. Cognitive development is normal. [orpha.net]

• Hypertelorism

  Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary [rarediseases.oscar.ncsu.edu]

  […] osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism [findexpertmd.com]

  […] short stature, shorts limbs with severe skeletal changes in the ankles, knees, and elbows, progressive curvature of the forearm, microretrognathia, beaked nose, transverse agenesis of soft palate, nasal speech, down-slanting of palpebral fissures with hypertelorism [accessanesthesiology.mhmedical.com]

• Beaked Nose

  Mesomelic short stature, shorts limbs with severe skeletal changes in the ankles, knees, and elbows, progressive curvature of the forearm, microretrognathia, beaked nose, transverse agenesis of soft palate, nasal speech, down-slanting of palpebral fissures [accessanesthesiology.mhmedical.com]

• Nasal Speech

  Mesomelic short stature, shorts limbs with severe skeletal changes in the ankles, knees, and elbows, progressive curvature of the forearm, microretrognathia, beaked nose, transverse agenesis of soft palate, nasal speech, down-slanting of palpebral fissures [accessanesthesiology.mhmedical.com]

  Nasal speech is common. [orpha.net]

Management and treatment Early diagnosis of MMS allows for more personalized surveillance and treatment. [orpha.net]

Prognosis Life expectancy is unknown, but clinical manifestations appear to remain stable in adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis Life expectancy is unknown, but clinical manifestations appear to remain stable in adulthood. Last updated: 10/1/2012 [rarediseases.info.nih.gov]

Etiology MSS is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes: SULF1 and SLCO5A1. Reported deletion sizes vary from 582Kb to 738 Kb. MSS is likely to represent a contiguous gene deletion syndrome. [orpha.net]

Etiology MSS is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes : SULF1 and SLCO5A1. Reported deletion sizes vary from 582Kb to 738 Kb. [rarediseases.info.nih.gov]

Summary Epidemiology To date 5 unrelated patients have been reported, including one family with multiple affected persons. [orpha.net]

Epidemiology To date 5 unrelated patients have been reported, including one family with multiple affected persons. [rarediseases.info.nih.gov]

Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. [phgkb.cdc.gov]