valve stenosis Congenital pulmonary veins atresia or stenosis Congenital tracheomalacia Congenital vitamin K-dependent coagulation factors deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency Continuous spikes and waves during [sanfordresearch.org]

nose (a nose in which the bridge has an externally visible concavity and loss of height), thick lower lip, large tongue, an inflammatory skin disorder, smooth hair, obesity, small genitalia, short fingers, congenital heart anomalies and intellectual [tsbvi.edu]

In addition, difficulty controlling the muscles of the mouth can lead to delayed speech development. The difficulties with coordination generally become noticeable in early childhood when the individual is learning these skills. [ghr.nlm.nih.gov]

Mild facial dysmorphic features may be observed such as high forehead, hypertelorism, epicanthic folds, depressed nasal bridge with anteverted nostrils, and thin upper lip. [orpha.net]

Besides the earlier reported features of relative macrocephaly and a broad and high forehead, 20 23 37 other distinctive features were downslanting and/or bent palpebral fissures, ptosis and/or blepharophimosis, marked nasolabial folds, and a wide mouth [jmg.bmj.com]

[…] a phenotype suggestive of a chromosomal abnormality. 2008 – Mariën P found limited cognitive deficit that closely resembles the "cerebellar cognitive and affective syndrome" (CeCAS). [en.wikipedia.org]

To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. [ncbi.nlm.nih.gov]

Cerebral and cerebellar atrophy with white matter changes on MRI scan were present in our second patient suggesting that patients with Gillespie syndrome may have more extensive CNS involvement than previously described. [doi.org]

Posterior segment OCT changes suggest that outer retinal damage suggestive of a phototoxic retinopathy may also be a factor in the reduced acuity. [disorders.eyes.arizona.edu]

In 1931 Marinesco et al 1 reported a family in which five siblings, four boys and a girl, had cerebellar ataxia and oligophrenia with congenital cataracts. [doi.org]

Gillespie: Aniridia, cerebellar ataxia and oligophrenia in siblings. Archives of Ophthalmology, Chicago, 1965; 73: 338-341. J. François et al: Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia). [whonamedit.com]

Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency. is a rare genetic disorder. [en.wikipedia.org]

ataxia-intellectual disability aniridia-cerebellar ataxia-mental deficiency aniridia, cerebellar ataxia, and mental retardation partial aniridia-cerebellar ataxia-oligophrenia Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni [ghr.nlm.nih.gov]

Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 2T A). [ncbi.nlm.nih.gov]

129 2T A mutation had hand tremors and learning disabilities [ 6 ]; a boy with c.111_141ins had intellectual impairment [ 29 ]; microcephaly, developmental delay, and several minor dysmorphic features were noted in the sporadic patient with I87R mutation [molvis.org]

Systemic features frequently include hand tremors and hypertonia. There is usually some degree of developmental delay ranging from fine motor difficulties to intellectual disabilities. [tsbvi.edu]

Other features include scanning speech, incoordination and attention tremor, and mental and motor retardation. Aetiology unknown. [whonamedit.com]

Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia (visible from the first year of life), gait and balance disorders with incoordination, intention tremor, and scanning speech. [orpha.net]

People with this disorder may walk unsteadily and have difficulty positioning the feet and turning (cerebellar gait); they may also speak slowly and haltingly, with pauses between each syllable (scanning speech). [rarediseases.org]

Gillespie syndrome reported as bilateral congenital mydriasis. Br J Ophthalmol. 1992;; 76 632-633 09 Richardson P, Schulenberg W E. Bilateral congenital mydriasis. Br J Ophthalmol. 1992;; 76 632-633 10 Wittig E O, Moreira C A, Friere-Maia N et al. [doi.org]

Individuals with aniridia-cerebellar ataxia-mental deficiency may also have additional eye abnormalities, such as excessive widening (dilatation) of the pupils (mydriasis) and/or extreme sensitivity to light (photophobia). [rarediseases.org]

Quarrell O (1993) Gillespie syndrome reported as bilateral congenital mydriasis. Br J Ophthalmol 77: 827–828. View Article Google Scholar 33. [journals.plos.org]

This abnormality can cause hypotonia and delayed development of motor skills such as walking. In addition, difficulty controlling the muscles of the mouth can lead to delayed speech development. [ghr.nlm.nih.gov]