Entry - 308750 - KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA - OMIM - (MIRROR)

 
 
308750

KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA


Alternative titles; symbols

SPASTIC PARAPLEGIA-KALLMANN SYNDROME


Clinical Synopsis
 

Nose
- Anosmia
Endocrine
- Hypogonadotropic hypogonadism
Neuro
- Spastic paraplegia
- Olfactory lobe agenesis
- Mirror hand movements (bimanual synkinesia)
- Ataxia
GU
- Unilateral renal agenesis
- Micropenis
- Cryptorchidism
- Testicular atrophy
Mouth
- High-arched palate
Hair
- Decreased sexual hair
Thorax
- Gynecomastia
Skel
- Eunuchoid habitus
Limbs
- Pes cavus
Misc
- Partial or complete anosmia in some heterozygous females
Lab
- Hypothalamic gonadotropin-releasing hormone (GnRH) deficiency
- Impaired FSH and LH secretion
- Leydig cell insensitivity to gonadotropin
Inheritance
- X-linked (Xp22.3)
▲ Close

▼ TEXT

Tuck et al. (1983) described 2 brothers with this combination. A sister had minor manifestations of spastic paraplegia.


▼ REFERENCES

  1. Tuck, R. R., O'Neill, B. P., Gharib, H., Mulder, D. W. Familial spastic paraplegia with Kallmann's syndrome. J. Neurol. Neurosurg. Psychiat. 46: 671-674, 1983. [PubMed: 6604133, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
mimadm : 2/27/1994
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986

308750

KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA


Alternative titles; symbols

SPASTIC PARAPLEGIA-KALLMANN SYNDROME



TEXT

Tuck et al. (1983) described 2 brothers with this combination. A sister had minor manifestations of spastic paraplegia.


REFERENCES

  1. Tuck, R. R., O'Neill, B. P., Gharib, H., Mulder, D. W. Familial spastic paraplegia with Kallmann's syndrome. J. Neurol. Neurosurg. Psychiat. 46: 671-674, 1983. [PubMed: 6604133] [Full Text: https://doi.org/10.1136/jnnp.46.7.671]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
mimadm : 2/27/1994
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 30, 2024