Preferred Label : Biemond syndrome II;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : The features of this syndrome, which resembles the Bardet-Biedl syndrome (209900),
are iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly.
The 3 brothers described by Blumel and Kniker (1959) as having the Laurence-Moon-Bardet-Biedl
syndrome may have had this condition. Hydrocephalus and hypospadias were also present.
Irregular autosomal dominant inheritance is suggested by the segregation of iris coloboma
for 4 generations in the family reported by Grebe (1953) and by the occurrence of
postaxial polydactyly of the toes in the father and a paternal aunt of the sibs described
by Blumel and Kniker (1959). Verloes et al. (1997) proposed a new nosology for the
so-called Biemond syndrome type 2 (BS2). They suggested that purported BS2 cases may
be divided into: (1) Bardet-Biedl syndrome (see 209901) with fortuitous coloboma or
aniridia; (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism,
short stature, coloboma, and preaxial polydactyly without obesity, only known from
the original report; (3) a 'new' dominantly inherited form of colobomatous microphthalmia
occasionally associated with obesity, hypogonadism, and mental retardation (601794),
which Verloes et al. (1997) described in their report; (4) a cytogenetically proven
Rubinstein-Taybi syndrome (180849) in 1 case; (5) an unclassifiable, early lethal
familial syndrome resembling Buntinx-Majewski syndrome (see 249620); and (6) a 'new'
coloboma-zygodactyly-clefting syndrome. A chromosomal anomaly was suspected in the
last 2 syndromes. *FIELD* SA Biemond (1934) *FIELD* RF 1. Biemond, A.: Het syndroom
van Laurence-Biedl en een aanverwant, nieuw syndroom. Nederl. T. Geneesk. 78: 1801-1814,
1934. 2. Blumel, J.; Kniker, W. T.: Laurence-Moon-Bardet-Biedl syndrome: review of
the literature and a report of five cases including a family group with three affected
males. Texas Rep. Biol. Med. 17: 391-410, 1959. 3. Grebe, H.: Contribution au diagnostic
differential du syndrome de Bardet-Biedl. J. Genet. Hum. 2: 127-144, 1953. 4. Verloes,
A.; Temple, I. K.; Bonnet, S.; Bottani, A.: Coloboma, mental retardation, hypogonadism,
and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology,
and delineation of three 'new' syndromes. Am. J. Med. Genet. 69: 370-379, 1997. *FIELD*
CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 210350;
Origin ID : 210350;
UMLS CUI : C1859487;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
