Goldberg-Shprintzen megacolon syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 25846562
 Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.
Dafsari HS, Byrne S, Lin JP, Pitt M, Jongbloed JD, Flinter F, Jungbluth H.
Am J Med Genet A. 2015;167(6):1300-4.
Ptosis
KIF1BP
Base Sequence Child Craniofacial Abnormalities Exons Females Gene Expression Hereditary Motor and Sensory Neuropathies Hirschsprung Disease Homo sapiens Molecular Sequence Data Nerve Tissue Proteins Sensory Receptor Cells Sequence Deletion
        

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001328 Specific learning disability Very frequent (99-80%)
HP:0002251 Aganglionic megacolon Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0000048 Bifid scrotum Occasional (29-5%)
HP:0000307 Pointed chin Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000340 Sloping forehead Occasional (29-5%)
HP:0000400 Macrotia Occasional (29-5%)
HP:0000431 Wide nasal bridge Occasional (29-5%)
HP:0000535 Sparse and thin eyebrow Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001302 Pachygyria Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0002209 Sparse scalp hair Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0007002 Motor axonal neuropathy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
KIF1BP KIF1 binding protein 26128