Welcome to PhenoDis

Autosomal recessive spastic paraplegia type 23

General Information (adopted from Orphanet):

Synonyms, Signs:	SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES SPG23 Spastic paraparesis - vitiligo - premature graying - characteristic facies lison syndrome
Number of Symptoms	18
OrphanetNr:	101003
OMIM Id:	270750
ICD-10:	G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	1 family [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Autosomal recessive complex spastic paraplegia
-Rare genetic disease
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000275)	Narrow face		76 / 7739
2	(HPO:0000278)	Retrognathia		100 / 7739
3	(HPO:0000252)	Microcephaly		832 / 7739
4	(HPO:0000347)	Micrognathia		426 / 7739
5	(HPO:0001258)	Spastic paraplegia		97 / 7739
6	(HPO:0003487)	Babinski sign		179 / 7739
7	(HPO:0001347)	Hyperreflexia		363 / 7739
8	(HPO:0100543)	Cognitive impairment		230 / 7739
9	(HPO:0009830)	Peripheral neuropathy	Rare [HPO]	206 / 7739
10	(HPO:0001045)	Vitiligo		13 / 7739
11	(HPO:0005586)	Hyperpigmentation in sun-exposed areas		2 / 7739
12	(HPO:0004771)	Premature graying of body hair		1 / 7739
13	(HPO:0007340)	Lower limb muscle weakness		61 / 7739
14	(OMIM)	Patchy vitiligo		1 / 7739
15	(OMIM)	Lentigenes		1 / 7739
16	(OMIM)	Spastic paraplegia, severe		1 / 7739
17	(OMIM)	Peripheral neuropathy, mild, in some		1 / 7739
18	(OMIM)	Cognitive impairment, mild		15 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Abdallat et al. (1980) and Lison et al. (1981) reported a consanguineous Jordanian family in which 2 brothers and a sister from first-cousin parents had progressive spastic paraparesis and peripheral neuropathy, as well as disordered skin and hair ... Abdallat et al. (1980) and Lison et al. (1981) reported a consanguineous Jordanian family in which 2 brothers and a sister from first-cousin parents had progressive spastic paraparesis and peripheral neuropathy, as well as disordered skin and hair pigmentation, including vitiligo, hyperpigmentation, numerous lentigines, and premature graying of body hair. Sural nerve biopsy showed axonal degeneration; skin biopsy showed abnormal epidermal pigmentation. The proband had diffusely depigmented hair and skin at birth. From the age of 6 months, patchy pigmentation developed, especially in exposed areas of the skin, and his hair developed irregular pigmentation. Progressive paraparesis was first noted at age 6 years. The face was thin with 'sharp' features. The syndrome was considered to be autosomal recessive. Stewart et al. (1981) described 2 sisters and a brother and 2 daughters of 1 of the affected sisters who had spastic paraplegia, peroneal neuropathy and crural hypopigmentation mainly about the knees and in the upper pretibial area. Daras et al. (1983) described 2 brothers and a sister from first-cousin parents who had progressive spastic paraplegia and cerebellar ataxia together with large hyperpigmented nevi on the legs. In an inbred Arab family in Israel, Mukamel et al. (1985) observed 4 affected sibs. All 4 sibs had severe incapacitating spastic paraparesis from early childhood, combined with abnormalities of skin and hair pigmentation. Two other sibs with similar dermatologic findings died at the ages of 3 and 4 months of sepsis. The proband, a 13-year-old boy, had microcephaly, canities, many cafe-au-lait spots and freckles all over his body, and spastic paraplegia. White hair was present from birth. Blumen et al. (2003) presented follow-up information on the family reported by Mukamel et al. (1985). The 4 affected sibs ranged in age from 22 to 32 years, and all had a prematurely aged facial appearance, with white scalp from birth and premature graying of eyebrows and eyelashes. Skin was hypopigmented in covered areas, with patchy, vitiligo-like depigmentation in sun-exposed areas. All affected sibs had severe weakness and spasticity of the lower extremities and mild cognitive impairment. Bamforth (2003) described an 18-year-old girl of northern European ancestry with acquired hypopigmentation and neurologic abnormalities. Her parents were not consanguineous and had 4 other healthy children. The patient's features included vitiligo, diffuse lentigines, increased deep tendon reflexes, spastic gait, kyphoscoliosis, small stature, and normal intelligence. Mode of inheritance was not clear.

Symptoms & Signs

	Field	Query
	Disease
	Symptom