Preferred Label : Keratoconus posticus circumscriptus;
Symbol : KPC;
CISMeF acronym : KPC;
Type : Other, mainly phenotypes with suspected mendelian basis;
Included titles and symbols : Kpc with associated malformations;
Description : Haney and Falls (1961) described affected brother and sister with associated manifestations
in the form of retarded mental and physical growth, hypertelorism, corneal nebulae,
short 'bull neck,' and stubby limbs and digits. They quoted the following description
of the corneal lesion: '...the appearance one might expect if into the posterior surface
of a plastic cornea one had excavated a subsidiary small basin-like depression by
pressing into it a marble of much smaller curvature than that of the corneal surface
itself.' The parents denied consanguinity. Curiously, the authors suggested autosomal
dominant inheritance with poor penetrance. It is true that Jacobs (1957) reported
keratoconus posticus in father and son. He made no mention of associated manifestations.
Although they stated that they had 'been unable to trace any former reports of an
identical condition,' Young et al. (1982) seem to have observed a brother and sister
with the same disorder as that reported by Haney and Falls (1961). The brother was
20 and the sister 14 years of age at the time of report. At birth, bilateral cleft
lip and cleft palate and bilateral central posterior corneal opacities were noted;
the lenses, which were clear, appeared to lie in juxtaposition to the posterior surface
of the cornea. Both had a short webbed neck, limitation of extension and supination
of the elbows, and brachydactyly, with fifth finger clinodactyly. Both had had bilateral
heel cord lengthening and the sister had frequent urinary tract infections and radiographically
proven bilateral ureteric reflux. Both had multiple errors of segmentation and fusion
in the thoracic vertebrae. Chromosomes were normal in the sibs; the mother had a triple-X
karyotype 'in all cells analysed.' Young et al. (1982) considered this coincidental.
*FIELD* RF 1. Haney, W. P.; Falls, H. F.: The occurrence of congenital keratoconus
posticus circumscriptus in two siblings presenting a previously unrecognized syndrome.
Am. J. Ophthal. 52: 53-57, 1961. 2. Jacobs, H. B.: Posterior conical cornea. Brit.
J. Ophthal. 41: 31-39, 1957. 3. Young, I. D.; Macrae, W. G.; Hughes, H. E.; Crawford,
J. S.: Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities,
short stature, and mental retardation in sibs. J. Med. Genet. 19: 332-336, 1982. *FIELD*
CS Neuro: Retarded mental development Growth: Retarded growth;
Inheritance : Autosomal recessive;
Prefixed ID : 244600;
Origin ID : 244600;
UMLS CUI : C1855645;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
