Macrocephaly-spastic paraplegia-dysmorphism syndrome

Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 12923872
 Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype.
Williams MS, Josephson KD.
Am J Med Genet A. 2003;121A(3):281-2.
Macrocephaly
Adult Craniofacial Abnormalities Females Head Homo sapiens Intellectual Disability Phenotype Spastic Paraplegia, Hereditary
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001257 Spasticity Very frequent (99-80%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000219 Thin upper lip vermilion Frequent (79-30%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000280 Coarse facial features Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000336 Prominent supraorbital ridges Frequent (79-30%)
HP:0000348 High forehead Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0001288 Gait disturbance Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0001956 Truncal obesity Frequent (79-30%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000574 Thick eyebrow Occasional (29-5%)
HP:0000664 Synophrys Occasional (29-5%)
HP:0002162 Low posterior hairline Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0003196 Short nose Occasional (29-5%)
HP:0100874 Thick hair Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001258 Spastic paraplegia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID