Optic atrophy, and Frontal bossing

Diseases related with Optic atrophy and Frontal bossing

In the following list you will find some of the most common rare diseases related to Optic atrophy and Frontal bossing that can help you solving undiagnosed cases.


Top matches:

High match CRANIODIAPHYSEAL DYSPLASIA


Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

High match AICA-RIBOSIDURIA


AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49


Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

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Other less relevant matches:

High match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY


Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

High match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

High match NEONATAL ADRENOLEUKODYSTROPHY


Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

High match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8


Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

High match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

High match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

High match AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA


Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Optic atrophy and Frontal bossing

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Optic atrophy and Frontal bossing. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Hydrocephalus Depressed nasal bridge Short stature Wide nasal bridge Anteverted nares Generalized hypotonia Visual impairment Nystagmus

Rare Symptoms - Less than 30% cases


Abnormality of the liver Hepatomegaly Failure to thrive Encephalopathy Hyperactivity EEG abnormality Pigmentary retinopathy Severe global developmental delay Bilateral single transverse palmar creases Esotropia Retinal dystrophy Scoliosis Sensorineural hearing impairment Photophobia Feeding difficulties Epicanthus High forehead Rod-cone dystrophy Ptosis Ventriculomegaly Headache Hearing impairment Cataract Finger syndactyly Anxiety Hyperreflexia Irritability Wide mouth Low-set ears Facial palsy Diaphyseal thickening Prominent forehead Proptosis Abnormality of metabolism/homeostasis Hyperostosis Blindness Visual loss Spasticity Vomiting Hypertelorism Short femoral neck Coarse facial features Craniofacial hyperostosis Paralysis Ataxia Peripheral neuropathy Mandibular prognathia Dysarthria Tremor Depressivity Hypogonadism Gait ataxia Mental deterioration Retinopathy Confusion Unsteady gait Peripheral axonal neuropathy Cortically dense long tubular bones Curved distal phalanges of the hand Dental malocclusion Abnormality of the nose Abnormality of pelvic girdle bone morphology Constriction of peripheral visual field Anosmia Abnormal cranial nerve morphology Broad ribs Increased intracranial pressure Cirrhosis Abnormal cortical bone morphology Cutaneous syndactyly Increased bone mineral density Fingernail dysplasia Facial palsy secondary to cranial hyperostosis Deviation of finger Esodeviation Broad clavicles Sclerotic vertebral endplates Trigeminal neuralgia 2-3 finger syndactyly Tall stature Sclerotic scapulae Overgrowth Nail dysplasia Nausea Spastic paraparesis Distal sensory impairment Thoracic hypoplasia Retinal degeneration Progressive visual loss Limb undergrowth Abnormality of the metaphysis Bowing of the long bones Rhizomelia Short ribs Recurrent pneumonia Coxa vara Epiphyseal dysplasia Neonatal respiratory distress Metaphyseal irregularity Mild short stature Metaphyseal dysplasia Delayed puberty Bronchitis Bell-shaped thorax Thoracic kyphosis Ovoid vertebral bodies Thoracic dysplasia Spondylometaphyseal dysplasia Anterior rib cupping Prominent sternum Narrow greater sacrosciatic notches Aplasia/hypoplasia of the extremities Cupped ribs Proximal femoral metaphyseal irregularity Enchondroma Astigmatism Platyspondyly Sensory neuropathy Agitation Polyneuropathy Coma Sensory impairment Migraine Type II diabetes mellitus Status epilepticus Intention tremor Hemiparesis Cholestasis Sensorimotor neuropathy Hypergonadotropic hypogonadism Paraparesis Apathy Atrophy/Degeneration affecting the brainstem Nyctalopia Iris hypopigmentation Fat malabsorption Biliary tract abnormality Growth delay Downslanted palpebral fissures Respiratory distress Kyphosis Short nose Delayed skeletal maturation Pneumonia Reduced visual acuity Skeletal dysplasia Telecanthus Postnatal growth retardation Midface retrusion Adrenal insufficiency Syndactyly Gastroesophageal reflux Cerebral calcification Hypotelorism Spastic tetraplegia Open mouth Long eyelashes Holoprosencephaly Thick upper lip vermilion Fusion of the left and right thalami Delayed speech and language development Motor delay Myopia Aggressive behavior Dandy-Walker malformation Attention deficit hyperactivity disorder Pectus carinatum Lumbar hyperlordosis Mitral regurgitation Abnormality of the genital system Dental crowding Stereotypy Exotropia Narrow palate Self-injurious behavior 2-3 toe syndactyly Epileptic encephalopathy Prominent nose Butterfly vertebrae Prominent nasal bridge Conductive hearing impairment Abnormality of the ribs Flared metaphysis Stenosis of the external auditory canal Diaphyseal sclerosis Diaphyseal dysplasia Facial hyperostosis Atrial septal defect Intellectual disability, severe Brachycephaly Thin upper lip vermilion Abnormality of the skin Tetraplegia Intellectual disability, profound Clitoral hypertrophy Congenital blindness Fused labia minora Microcephaly Hypertonia Absent speech Myoclonus Macrotia Muscular hypotonia of the trunk Short philtrum Everted lower lip vermilion Vertebral fusion Hyperplasia of the maxilla Malar flattening Gait disturbance Abnormality of movement High, narrow palate Abnormality of retinal pigmentation Decreased liver function Wide anterior fontanel Abnormal palate morphology Abnormality of neuronal migration Primary adrenal insufficiency Polar cataract Elevated long chain fatty acids Anemia Hypoplasia of the corpus callosum Developmental regression Splenomegaly Thrombocytopenia Hepatosplenomegaly Triangular face Brain atrophy Short chin Leukopenia Osteopetrosis Increased head circumference Uncontrolled eye movements Increased density of long bones Cognitive impairment Dolichocephaly Low-set, posteriorly rotated ears Thoracic kyphoscoliosis Arnold-Chiari malformation Abnormality of brain morphology Exaggerated median tongue furrow Neoplasm Abnormality of cardiovascular system morphology Arrhythmia Deeply set eye Toe syndactyly Facial asymmetry Joint hyperflexibility Polymicrogyria Full cheeks Hand polydactyly High palate Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Abnormal facial shape Irregular iliac crest



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