Lenz syndrome

Classification according to ICD-10
Q11.2	Microphthalmos
ICD-10 online (WHO version 2019)

The Lenz microphthalmia syndrome or Lenz syndrome is an inherited disease with coloboma , missing or too small eye appendages, cataract in combination with various malformations of fingers, teeth, heart and urogenital tract.

Synonyms are:

Lenz Dysmorphogenetic Syndrome
Lenz Syndrome II
Type I syndromic microphthalmia

The name refers to the German geneticist Widukind Lenz , who first described the disease in 1955.

distribution

Frequency is unknown; inheritance is X chromosomal - recessive .

root cause

The disease is based on mutations at location Xq27-q28.

Clinical manifestations

Clinical criteria are:

Eye anomalies such as microphthalmia , anophthalmia , microcornea , coloboma , divergent strabismus , blepharophimosis , nystagmus , cataract , myopia
Facial dysmorphism such as epicanthus , mongoloid lid axis, auricular dysplasia, microgenius , tooth anomalies,
Finger dysplasia, clinodactyly
Considerable short stature
Skeletal anomalies such as hypoplasia of the clavicles, narrow thorax , cubitus valgus, kyphoscoliosis , lumbar lordosis , knee flexion contracture
Renal abnormalities such as unilateral absence, hydroureter
Genital malformations such as cryptorchidism , hypospadias

Web links

MICROPHTHALMIA, SYNDROMIC 2; MCOPS2. In: Online Mendelian Inheritance in Man . (English)

Individual evidence

↑ Who named it
↑ ^a ^b Pseudo-Zellweger Syndrome. In: Orphanet (Rare Disease Database).
^ W. Lenz: Recessive-sex-linked microphthalmia with multiple malformations. In: Zeitschrift für Kinderheilkunde , Berlin, 1955, Vol. 77, ISSN 0044-2917 , pp. 384-390, PMID 13300470 .
↑ MICROPHTHALMIA, SYNDROMIC 1; MCOPS1. In: Online Mendelian Inheritance in Man . (English)
↑ G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger (eds.): Leiber - The clinical syndromes. Syndromes, sequences and symptom complexes. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .

[Who-1] Who named it

[Orpha-2] Pseudo-Zellweger Syndrome. In: Orphanet (Rare Disease Database).

[3] W. Lenz: Recessive-sex-linked microphthalmia with multiple malformations. In: Zeitschrift für Kinderheilkunde , Berlin, 1955, Vol. 77, ISSN 0044-2917 , pp. 384-390, PMID 13300470 .

[4] MICROPHTHALMIA, SYNDROMIC 1; MCOPS1. In: Online Mendelian Inheritance in Man . (English)

[5] G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger (eds.): Leiber - The clinical syndromes. Syndromes, sequences and symptom complexes. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .