On examination, there were also sparse scalp hair, very long and curled upwards eyelashes and short stature. Oliver-McFarlane syndrome was suspected. [ncbi.nlm.nih.gov]

stature, and intellectual disability. [orpha.net]

Acronym OMCS Synonyms Congenital trichomegaly, pigmentary retinal degeneration, and short stature Eyelashes long, mental retardation Long eyelashes with mental retardation Trichomegaly, retina pigmentary degeneration, dwarfism Trichomegaly retina pigmentary [uniprot.org]

Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. [malacards.org]

Congenital trichomegaly, pigmentary retinal degeneration, and short stature. Am J Ophthalmol 1986 ; 101 : 490 –1. Chang TS, McFarlane DC, Oliver G, et al. [bjo.bmj.com]

These include malnutrition, use of various medications, acquired immunodeficiency syndrome, porphyria, anorexia nervosa, pregnancy, hypothyroidism, dermatomyositis, and pretibial myxoedema. 4, 5 Congenital trichomegaly has been reported as a part of many [nature.com]

He was initially examined at 2 yearsof age with failure to thrive. At that time he wasnoted to have long eyelashes (20 mm) withbushy eyebrows and sparse scalp hair. Thesefeatures had been present since birth. [docslide.com.br]

[…] to thrive Retinal atrophy Titubation Waddling gait Progressive peripheral neuropathy Delayed puberty Spasticity Tics Tetraparesis Milia Facial palsy Shoulder girdle muscle atrophy Cerebellar hypoplasia Difficulty walking Gait disturbance Abnormal facial [mendelian.co]

Serra,Andrzej Grzybowski Clinics in Dermatology. 2016; 34(2): 151 3 Ophthalmic Manifestations of Systemic Diseases—Part 2: Metabolic, Infections, Granulomatoses, Demyelination, and Skeletal Dysplasias Ananya Panda,Sanjay Sharma,Manisha Jana,Arundeep Arora [ijem.in]

dysplasia Hip dislocation Down-sloping shoulders Hoarse voice Onset Stridor Thick eyebrow Sleep apnea Feeding difficulties Dysphonia Knee flexion contracture Dolichocephaly Congenital hip dislocation Foot dorsiflexor weakness Wide nasal bridge Bilateral [mendelian.co]

Figure 2 Chorioretinal degeneration with aggregation of the retinal pigment epithelium on both eyes at the age of 5½ years (A, B). Nine years later, a progression of the chorioretinal degeneration was observed (C, D). [bjo.bmj.com]

Signs and Symptoms Abnormality of retinal pigmentation ... ... [familydiagnosis.com]

Electrophysiology of the photoreceptorsduring retinal pigment epithelial disease. Arch.Ophthalmol. 102:675, 1984.3. Aaberg, T. M., Campo, R. V., and Joffe, L.:Recurrences and bilaterality in the multiple evanes-cent white-dot syndrome. Am. J. [docslide.com.br]

pigment epithelial mottling Myoclonic spasms Prominent forehead Wide mouth Facial diplegia Camptodactyly Severe sensorineural hearing impairment Decreased serum testosterone level Sandal gap Limited extraocular movements Internuclear ophthalmoplegia [mendelian.co]

The patient was born to healthy parents and developed night blindness at 2 years of age. Retinitis pigmentosa was diagnosed when he was 5 years old. [ncbi.nlm.nih.gov]

We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. [ncbi.nlm.nih.gov]

Showing of 20 1%-4% of people have these symptoms Growth hormone deficiency 0000824 Long eyelashes Increased length of eyelashes Unusually long eyelashes [ more ] 0000527 Pigmentary retinopathy 0000580 Sparse hair 0008070 Percent of people who have these [rarediseases.info.nih.gov]

hair High forehead Bilateral ptosis Downslanted palpebral fissures Ptosis Abnormality of the skeletal system Curly hair Hypogonadism Abducens palsy Diaphragmatic weakness Hand muscle atrophy Small for gestational age Inspiratory stridor Bilateral vocal [mendelian.co]

Note scalp alopecia, bushy eye-brows, and trichomegaly.absence of facial hair persisted. He has notreproduced. [docslide.com.br]

Symptoms - Trichomegaly with mental retardation- dwarfism and pigmentary degeneration of retina * Destruction of tear canals * Slow dentition * Poor vision * Pigmentary degeneration of retina * Different colored eyes * Hairy eyebrows * Hairy eyelashes * Alopecia [checkorphan.org]

[…] symptoms Growth hormone deficiency 0000824 Long eyelashes Increased length of eyelashes Unusually long eyelashes [ more ] 0000527 Pigmentary retinopathy 0000580 Sparse hair 0008070 Percent of people who have these symptoms is not available through HPO Alopecia [rarediseases.info.nih.gov]

Motor neuron atrophy Fatty replacement of skeletal muscle Calvarial hyperostosis Abnormality of calvarial morphology Dysphasia Language impairment Growth hormone deficiency Recurrent hypoglycemia Dystonia Cataract Central heterochromia Long eyebrows Alopecia [mendelian.co]

Delleman and Van Walbeek 4 suggested a partial trisomy 13. However, the karyotype of our patient showed no abnormalities. References Oliver GL, McFarlane DC. [bjo.bmj.com]

Nerve con-duction studies showed small or absent senso-ry action potentials with preserved motornerve conduction velocities, suggesting thepresence of an axonal peripheral neuropathy.The combination of congenital trichomegalyand retinal pigmentation is [docslide.com.br]

Bucelli et al. (2015) suggested use of the designation MSP4 to include disparate phenotypes in muscle, brain, spinal cord, and bone caused by mutation in the SQSTM1 gene ( OMIM ); see {617158}. [mendelian.co]

Pigmentary retinal degeneration, trichomegaly, prenatal onset growth failure, anterior pituitary deficiencies, and peripheral neuropathy characterize the condition. [ncbi.nlm.nih.gov]

Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015). [malacards.org]

Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy. [uniprot.org]

Peripheral neuropathy as present in our patient, was seen in three previous cases. 1, 2, 6– 8 All reported cases appear to be sporadic. As only a very limited number of patients are documented, the genetics of this syndrome remain unclear. [bjo.bmj.com]

Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013 ). [mendelian.co]

Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015). [malacards.org]

Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy. [uniprot.org]

SNP ID Clin Chr 19 pos Sequence Context AA Info Type VAR_044409 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020] VAR_044410 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020] VAR_071091 Spastic paraplegia 39, autosomal recessive [genecards.org]

Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015 ).Laurence-Moon syndrome ( OMIM ) is an allelic disorder with overlapping features. [mendelian.co]

ataxia Hearing impairment Autosomal dominant inheritance Cerebellar atrophy Generalized hypotonia Distal amyotrophy Areflexia Nystagmus Rod-cone dystrophy Proximal muscle weakness Sensorineural hearing impairment Ventriculomegaly Hyporeflexia Myopathy [mendelian.co]

ataxia Congestive heart failure Dilatation Increased variability in muscle fiber diameter Osteolysis Mutism Abnormality of pelvic girdle bone morphology EMG: myopathic abnormalities Elevated alkaline phosphatase Scapular winging Progressive muscle weakness [mendelian.co]

A 23-year-old woman presented to our hospital with 9 months history of progressive ataxia, visual loss since childhood due to retinitis pigmentosa and primary amenorrhea. [ncbi.nlm.nih.gov]

A 23-year-old woman presented to our hospital with 9 months history of progressive ataxia, visual loss since childhood due to retinitis pigmentosa and primary amenorrhea. [ncbi.nlm.nih.gov]

Secondary amenorrhea Spastic diplegia Poor head control Impaired vibratory sensation Broad-based gait Primary amenorrhea Chorea Osteoporosis Myopathic facies Dysmetria Ophthalmoplegia Long nose Abnormality of the nervous system Mental deterioration Weakness [mendelian.co]