Micrognathia, and Blindness

Diseases related with Micrognathia and Blindness

In the following list you will find some of the most common rare diseases related to Micrognathia and Blindness that can help you solving undiagnosed cases.

Top matches:

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of CraniosynostosisCraniosynostosis-2 (CRS2 ) is caused by mutation in the MSX2 gene (OMIM ) on chromosome 5q. Craniosynostosis-3 (CRS3 ) is caused by mutation in the TCF12 gene (OMIM ) on chromosome 15q21. Craniosynostosis-4 (CRS4 ) is caused by mutation in the ERF gene (OMIM ) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5 ) is conferred by variation in the ALX4 gene (OMIM ) on chromosome 7p21. Craniosynostosis-6 (CRS6 ) is caused by mutation in the ZIC1 gene (OMIM ) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7 ) is conferred by variation in the SMAD6 gene (OMIM ) on chromosome 15q22.

CRANIOSYNOSTOSIS 1; CRS1 Is also known as crs|craniostenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Blindness
  • Clinodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 1; CRS1

Related symptoms:

  • Micrognathia
  • Hepatic steatosis
  • Retinal detachment
  • Hypertriglyceridemia
  • Congenital blindness


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM-INSULIN RESISTANCE SYNDROME

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.

CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME Is also known as asparagine synthetase deficiency|asns deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME

Other less relevant matches:

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Is also known as metaphyseal chondrodysplasia, murk jansen type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

Medium match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

Medium match DYSOSTEOSCLEROSIS

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DYSOSTEOSCLEROSIS

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Blindness

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Blindness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hearing impairment Short stature Cerebral visual impairment Respiratory insufficiency Cerebral atrophy Optic atrophy Cerebellar atrophy Macrocephaly Hypsarrhythmia Cerebral cortical atrophy Encephalopathy Hypertelorism Frontal bossing Muscular hypotonia

Rare Symptoms - Less than 30% cases

Increased CSF protein Flexion contracture Brachydactyly Hyperactivity Brachycephaly Prominent forehead Ventricular septal defect Myoclonus Malar flattening Vomiting Cardiomyopathy Proptosis Clinodactyly Dilation of lateral ventricles Metaphyseal chondrodysplasia Rickets Growth delay Spasticity Dolichocephaly Anteverted nares Edema Craniosynostosis Osteopenia Retrognathia Short ribs Low-set ears Skeletal dysplasia Progressive encephalopathy Hypertonia Jaundice Cerebellar hypoplasia Aciduria Focal-onset seizure Macrotia Areflexia Ventriculomegaly Sloping forehead Intrauterine growth retardation Hepatomegaly Turricephaly Progressive microcephaly Developmental regression Epileptic encephalopathy Failure to thrive Hepatic failure Congenital blindness Hypoplasia of the corpus callosum Short sternum Absent paranasal sinuses Short diaphyses Clavicular sclerosis Sclerosis of skull base Broad femoral neck Diaphyseal thickening Narrow iliac wings Delayed eruption of primary teeth Vertebral hypoplasia Optic nerve compression Abducens palsy Cranial nerve compression Craniofacial hyperostosis Hypoplastic vertebral bodies Rough bone trabeculation Parietal bossing Absent frontal sinuses Delayed closure of the anterior fontanelle Astrocytosis Broad ribs Increased bone mineral density Nonimmune hydrops fetalis Type I transferrin isoform profile Abnormality of the amniotic fluid Budd-Chiari syndrome Nystagmus High palate Abnormality of the dentition Platyspondyly Narrow chest Delayed eruption of teeth Recurrent fractures Round face Cerebral calcification Abnormality of the metaphysis Abnormality of dental enamel Facial paralysis Thin ribs Osteopetrosis Abnormal cranial nerve morphology Obstructive sleep apnea Irregular vertebral endplates Premature loss of teeth Abnormal metaphyseal trabeculation Natal tooth Oligodontia Macular atrophy Disproportionate short stature Aplasia/Hypoplasia of the skin Flared metaphysis Increased susceptibility to fractures Dermal atrophy Proportionate short stature Acidosis Sclerotic scapulae Encephalitis Progressive neurologic deterioration Choreoathetosis Cholestasis Clumsiness Hepatic fibrosis Decreased liver function Epilepsia partialis continua Paraparesis Phonic tics Spastic paraparesis Cerebral degeneration Intellectual disability, progressive Abnormality of vision Slurred speech Akinesia Status epilepticus Spastic diplegia Progressive spasticity Multifocal seizures Celiac disease Abnormality of visual evoked potentials Severe failure to thrive Chronic hepatitis Gastric ulcer Micronodular cirrhosis Fetal akinesia sequence Microvesicular hepatic steatosis 3-Methylglutaconic aciduria Bile duct proliferation Tics Hemiparesis Hepatitis Sclerosis of hand bone Abnormality of the eye Increased intervertebral space Progressive bowing of long bones Ataxia Motor delay Peripheral neuropathy Fever Dysphagia Visual loss Pneumonia Dementia Respiratory failure Gastrointestinal dysmotility Rigidity Elevated hepatic transaminase Paralysis Generalized-onset seizure Coma Neuronal loss in central nervous system Memory impairment Increased serum lactate Ethylmalonic aciduria Brain atrophy Gliosis Neurodegeneration Abnormality of coagulation Cirrhosis Lactic acidosis Peripheral axonal neuropathy Abnormality of movement Generalized tonic-clonic seizures Abnormality of the liver Abnormality of immune system physiology Hypercalciuria Portal hypertension Leukodystrophy Short distal phalanx of finger Renal cyst Short metacarpal Underdeveloped nasal alae Small nail Horseshoe kidney Strabismus Dystonia Absent speech Severe global developmental delay Abdominal distention Full cheeks Tented upper lip vermilion Nyctalopia CNS hypomyelination Peripheral edema Muscle weakness Abnormal facial shape Visual impairment Wide nasal bridge Respiratory distress Behavioral abnormality Mandibular prognathia Coarse facial features Apnea Irritability Protruding ear Retinal degeneration Intellectual disability, moderate Flat face Malar prominence Telecanthus Hyperostosis Hyperthyroidism Scaphocephaly Coronal craniosynostosis Oxycephaly Anterior plagiocephaly Hepatic steatosis Retinal detachment Hypertriglyceridemia Insulin-resistant diabetes mellitus Primary gonadal insufficiency Severe short-limb dwarfism Hyperreflexia Rod-cone dystrophy Muscular hypotonia of the trunk Delayed myelination Spastic tetraplegia Large hands Cortical dysplasia Cortical gyral simplification Hypoplasia of the pons Long foot Profound global developmental delay Exaggerated startle response Delayed speech and language development Downslanted palpebral fissures Short neck Lethargy Broad nasal tip Large fontanelles Enlarged joints Elevated alkaline phosphatase Prominent supraorbital ridges Hypercalcemia Bowing of the legs Hypophosphatemia Pathologic fracture Hip contracture Hypoparathyroidism Upper limb undergrowth Choanal stenosis Misalignment of teeth Clubbing of fingers Hyperphosphaturia Metaphyseal cupping Short long bone Wide cranial sutures Metaphyseal dysostosis Thick skull base Prominent supraorbital arches in adult Hypertension Splenomegaly Hypogonadism Hepatosplenomegaly Hypertrophic cardiomyopathy Thin vermilion border Nephropathy Ascites Nephrotic syndrome Disproportionate short-limb short stature Osteolysis Involuntary movements Infantile encephalopathy Absence seizures Severe muscular hypotonia Aortic regurgitation Shock Focal impaired awareness seizure Stridor Delayed CNS myelination Periventricular leukomalacia Episodic vomiting Generalized tonic seizures Inspiratory stridor Narrow naris Anteverted ears Glutaric aciduria Nephrocalcinosis Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Multifocal cerebral white matter abnormalities Abnormality of the skeletal system Clinodactyly of the 5th finger Severe short stature Kyphoscoliosis Waddling gait Overgrowth Choanal atresia Bowing of the long bones Knee flexion contracture Cerebral cortical neurodegeneration


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