Disease #05031 (CATMANS (Catel-Manzke syndrome (CATMANS)), OMIM:616145)

Official abbreviation CATMANS
Name Catel-Manzke syndrome (CATMANS)
OMIM ID 616145
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 2 genes KYNU, TGDS
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 11:00:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00303206 Pat1 PubMed: Ehmke 2020 - M - - Caribbean - - - - CATMANS short stature (HP:0004322) -2.3 SD; vertebral anomalies (HP:0003468), butterfly vertebrae T10–11, scoliosis; no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); no other limb defects (-HP:0040068); no Pierre Robin sequence with cleft palate (-HP:0000201); microretrognathia (HP:0000308); no renal malformation (-HP:0012210); congenital heart defect (HP:0001627), hypoplastic left heart; mild developmental delay (HP 0001263); no muscular hypotonia (-HP:0001252); no failure to thrive (-HP:0001531); no microcephaly (-HP:0000252); facial dysmorphism (HP:0001999); no joint hypermobility (-HP:0001382); hepatomegaly KYNU KYNU 2 1 Johan den Dunnen
00303207 Pat2 PubMed: Ehmke 2020 - F yes Turkey - - - - - CATMANS short stature (HP:0004322) -4.6 SD; vertebral anomalies (HP:0003468), butterfly vertebra T8; no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); other limb defects (HP:0040068), long thumbs; no Pierre Robin sequence with cleft palate (-HP:0000201); no microretrognathia (-HP:0000308); no renal malformation (-HP:0012210); congenital heart defect (HP:0001627), Tetralogy of Fallot, anomalous origin left coronary artery from pulmonary artery; developmental delay (HP 0001263); severe muscular hypotonia (HP:0001252); failure to thrive (HP:0001531), PEG feeding; microcephaly (HP:0000252) -6.4 SD; facial dysmorphism (HP:0001999); no joint hypermobility (-HP:0001382); sensorineural hearing loss (HP:0000407); malformation of cochlea and semicircular canals (HP:0008554, HP:0011380); bilateral single transverse palmar crease KYNU ANKS4B, KYNU 2 1 Johan den Dunnen
00303208 Pat3 PubMed: Ehmke 2020 - F yes Turkey - - - - - CATMANS short stature (HP:0004322) -2.2 SD; no vertebral anomalies (-HP:0003468); no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); other limb defects (HP:0040068), short 3rd fingers and short 2nd metacarpals due to accessory ossicles, clinodactyly of 5th fingers, 2,3-toe syndactyly; no Pierre Robin sequence with cleft palate (-HP:0000201); microretrognathia (HP:0000308); renal malformation (HP:0012210), unilateral renal agenesis; congenital heart defect (HP:0001627), secundum atrial septal defect, subaortic ventricular septal defect; mild developmental delay (HP 0001263); no muscular hypotonia (-HP:0001252); no failure to thrive (-HP:0001531); microcephaly (HP:0000252) -2.3 SD; facial dysmorphism (HP:0001999); joint hypermobility (HP:0001382) KYNU KYNU 1 1 Johan den Dunnen
00359452 - - - - - (Brazil) - - - - - CATMANS - - KYNU 1 1 Cynthia Silveira
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