Macrocephaly, and Optic atrophy

Diseases related with Macrocephaly and Optic atrophy

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


Top matches:

High match OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME


This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Visual impairment
  • Macrocephaly
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

High match DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME


Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.

DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME Is also known as hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Peripheral neuropathy
  • Macrocephaly
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME

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

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Other less relevant matches:

High match SEVERE CANAVAN DISEASE


Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.

SEVERE CANAVAN DISEASE Is also known as neonatal canavan disease|infantile canavan disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CANAVAN DISEASE

High match COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT


Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

High match OPTIC ATROPHY 11; OPA11


OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 11; OPA11

High match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

High match CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD


Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD

High match PEROXISOME BIOGENESIS DISORDER 4B; PBD4B


Peroxisome biogenesis disorder-4B (PDB4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

High match CRANIOMETAPHYSEAL DYSPLASIA


Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Macrocephaly and Optic atrophy

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Abnormal facial shape Generalized hypotonia Short stature Craniofacial hyperostosis Hyperostosis Conductive hearing impairment Coarse facial features Wide nasal bridge Depressed nasal bridge Mandibular prognathia

Rare Symptoms - Less than 30% cases


Facial palsy Gait disturbance Visual loss Coma Muscular hypotonia Ataxia Facial hyperostosis Diaphyseal sclerosis Headache Broad forehead Myopia Flared metaphysis Increased bone mineral density Increased intracranial pressure Hydrocephalus Facial diplegia Sensorineural hearing impairment Abnormality of the cerebral white matter Respiratory distress Peripheral neuropathy Leukoencephalopathy Cerebellar hypoplasia Concave nasal ridge Choanal stenosis Elevated circulating parathyroid hormone level Hyperparathyroidism Parathyroid adenoma Elevated alkaline phosphatase Choanal atresia Papilledema Broad alveolar ridges Progressive visual loss Scaphocephaly Dolichocephaly Astigmatism Psychosis Pointed chin Celiac disease Abnormality of the musculature Patellar dislocation Genu valgum Megalencephaly Patellar subluxation Cortical tubers Craniofacial osteosclerosis Club-shaped distal femur Adrenal medullary hypoplasia Bilateral conductive hearing impairment Neonatal hypotonia Thickened ribs Asymmetry of the mandible Nasolacrimal duct obstruction Nasal obstruction Abnormal cranial nerve morphology Osteopetrosis Metaphyseal dysplasia Mixed hearing impairment Sclerosis of skull base Abnormality of the nasopharynx Epiphora Cranial nerve compression Abnormality of the thorax Metaphyseal widening Prominent supraorbital ridges Relative macrocephaly Abnormality of the metaphysis Cortical sclerosis Telecanthus Skeletal dysplasia Ureterocele Adrenal insufficiency Depressivity Decreased liver function Bony paranasal bossing Single transverse palmar crease Retinal dystrophy Delayed eruption of permanent teeth Rod-cone dystrophy Short nose Hepatomegaly Nystagmus Decreased nerve conduction velocity Microcephaly Delayed speech and language development Abnormality of the ribs Muscular dystrophy Mental deterioration Cataract Abnormality of visual evoked potentials Sleep disturbance Lethargy EEG abnormality Gastroesophageal reflux Dysphagia Spasticity Diaphyseal dysplasia Diaphyseal thickening Stenosis of the external auditory canal Frontal bossing Spastic paraplegia Cutis marmorata Aortic regurgitation Mitral regurgitation Pulmonary arterial hypertension Increased serum lactate Areflexia Obesity Intellectual disability, mild Broad jaw Mild global developmental delay Thickened calvaria Craniosynostosis High forehead Brachycephaly Severe global developmental delay Paraplegia Cognitive impairment Gray matter heterotopias Abnormality of the basal ganglia Abnormality of mitochondrial metabolism Hyperkinesis Amblyopia Brain atrophy Dysmetria Hypermetropia Macrotia Hyperactivity Absent speech Midface retrusion Strabismus Right hemiplegia Type II lissencephaly Polymicrogyria Porencephalic cyst Occipital encephalocele Infantile spasms Hypoplasia of the brainstem Hemiplegia Lissencephaly Absence seizures Heterotopia Encephalocele Progressive neurologic deterioration Spastic tetraplegia Tetraplegia Abnormal cerebellum morphology Neurodegeneration Patchy sclerosis of finger phalanx



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