Presentation
They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. [ncbi.nlm.nih.gov]
[…] eyelashes-intellectual disability syndrome Oliver-McFarlane syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 275400 UMLS: C1848745 MeSH: - GARD: 5266 MedDRA: - The documents contained in this web site are presented [orpha.net]
Visual acuity was 20/400 in the right eye and 20/100 in the left at initial presentation. Cycloplegic retinoscopy revealed refractive errors of 7.0 in both eyes. [bjo.bmj.com]
Entire Body System
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Short Stature
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]
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Malnutrition
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]
Gastrointestinal
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Failure to Thrive
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]
Musculoskeletal
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Skeletal Dysplasia
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]
Eyes
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Retinal Pigmentation
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]
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Night Blindness
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]
Skin
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Sparse Hair
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]
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Alopecia
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]
Psychiatrical
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Suggestibility
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]
Neurologic
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Peripheral Neuropathy
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]
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Spastic Paraplegia
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]
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Gait Ataxia
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]
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Cerebellar Ataxia
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]
Urogenital
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Primary Amenorrhea
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]
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Amenorrhea
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]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
More Symptoms of Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina » • • • Back to: « Trichomegaly Treatments See also the following treatment articles: Treatments for Intellectual disabilities Causes See also causal [familydiagnosis.com]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Treatment - Trichomegaly with mental retardation- dwarfism and pigmentary degeneration of retina Not supplied. [checkorphan.org]
Prognosis
Prognosis - Trichomegaly with mental retardation- dwarfism and pigmentary degeneration of retina The \'prognosis\' of Oliver-McFarlane syndrome usually refers to the likely outcome of Oliver-McFarlane syndrome. [checkorphan.org]
Epidemiology
Relevant External Links for PNPLA6 Genetic Association Database (GAD) PNPLA6 Human Genome Epidemiology (HuGE) Navigator PNPLA6 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PNPLA6 No data available for Genatlas for PNPLA6 Gene Neuropathy [genecards.org]
Prevention
Our database lists the following as having Oliver-McFarlane syndrome as a symptom of that condition: * Amaurosis hypertrichosis Prevention - Trichomegaly with mental retardation- dwarfism and pigmentary degeneration of retina Not supplied. [checkorphan.org]
This study was supported by an unrestrictedgrant from Research to Prevent Blindness.Inquiries to Robert A. [docslide.com.br]