Some affected individuals experience growth delays ultimately resulting in short stature. [rarediseases.org]

Short stature, hypercholesterolemia, seizures and hypothyroidism have also been reported. Genetics No specific mutation has been found. Most cases occur sporadically. [disorders.eyes.arizona.edu]

The elder sister (index patient 1) had enopthalmous, strabismus, a thin upper lip and short stature 155cm. [epostersonline.com]

Other hormone abnormalities lead to short stature in some affected individuals. The third characteristic feature of Boucher-Neuhäuser syndrome is eye abnormalities, most commonly chorioretinal dystrophy. [ghr.nlm.nih.gov]

The other family members showed microcephaly, slight mental retardation, and short stature, but not chorioretinopathy. [healio.com]

In the first week of life, he had some choking episodes, which were thought to be due to gastro-oesophageal reflux. Thereafter, feeding and weight gain were satisfactory. He had an apnoeic attack at the age of 7 weeks. [journals.plos.org]

People with Boucher-Neuhäuser syndrome can also have abnormal eye movements, including involuntary side-to-side movements of the eyes (nystagmus). [ghr.nlm.nih.gov]

In congenital glaucoma, elevated intraocular pressure causes eye pain, photophobia, and epiphora and corneal opacification, findings not observed in primary megalocornea (12). [azdoc.site]

The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial wide, thin elongated mouth, big and protuded ear "cup", jaw undersized [ncbi.nlm.nih.gov]

Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and small chin. She also had poor coordination. [omim.org]

The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial wide, thin elongated mouth, big and protuded ear "cup", jaw undersized [ncbi.nlm.nih.gov]

[…] feeding difficulties (4, 7, 9, 29), cerebral hypomyelination (4, 5, 14, 18), dyslipidemia (14, 24, 27), sensorineural deafness (15, 17, 27), laryngomalacia (7, 29), large, fleshy, and cup-shaped ears (6, 9, 28), cardiopathy (7, 28), obesity (6, 9), and cryptorchidism [azdoc.site]

They had been treated for primary and secondary amenorrhea at the age of 20 years and neurological problems had started at the age of 30 years. [jlc.jst.go.jp]

Pregnancy was complicated by 7 days of vaginal bleeding at 8 weeks gestation, and persistent abdominal pain from 17 weeks of pregnancy. Due to the abdominal pain, labour was induced at 39 weeks gestation. [journals.plos.org]

In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]

Hypotonia, poor coordination and swallowing difficulties were present. One patient was obese and the other had scoliosis. Both had large fleshy ears and long fingers. The spectrum of the mental retardation megalocornea syndrome is not fully defined. [scinapse.io]

She also had poor coordination. Santolaya et al. (1992) concluded that hypotonia is a major feature of this syndrome. Antinolo et al. (1994) reported an isolated case of megalocornea, mental retardation, and hypotonia. [omim.org]

speech and cerebellar ataxia. [malacards.org]

Systemic Features: Difficulties with balance, intention tremors, and scanning speech are evident in adolescence or early adult life. Cerebellar ataxia is present in nearly 40 percent of individuals. [disorders.eyes.arizona.edu]

Clinical Characteristics Ocular Features: This rare disorder is characterized by profound mental retardation and megalocornea together with nonspecific facial features including epicanthal folds, broad nasal root, frontal bossing and antimongoloid lid [disorders.eyes.arizona.edu]