Macrocephaly, and Ophthalmoplegia

Diseases related with Macrocephaly and Ophthalmoplegia

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

Top matches:

Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.

CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CAREY-FINEMAN-ZITER SYNDROME

Other less relevant matches:

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20 Is also known as coxpd20

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20

Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010).Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A ), a milder and somewhat different neurologic phenotype. Genetic Heterogeneity of Complex Cortical Dysplasia With Other Brain MalformationsSee also CDCBM2 (OMIM ), caused by mutation in the KIF5C gene (OMIM ) on chromosome 2q23; CDCBM3 (OMIM ), caused by mutation in the KIF2A gene (OMIM ) on chromosome 5q12; CDCBM4 (OMIM ), caused by mutation in the TUBG1 gene (OMIM ) on chromosome 17q21; CDCBM5 (OMIM ), caused by mutation in the TUBB2A gene (OMIM ) on chromosome 6p25; CDCBM6 (OMIM ), caused by mutation in the TUBB gene (OMIM ) on chromosome 6p21; CDCBM7 (OMIM ), caused by mutation in the TUBB2B gene (OMIM ) on chromosome 6p25; and CDCBM8 (OMIM ), caused by mutation in the TUBA8 gene (OMIM ) on chromosome 22q11.See also lissencephaly (e.g., LIS1, {607432}), which shows overlapping features and may result from mutation in tubulin genes.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Encephalopathy due to defective mitochondrial and peroxisomal fission-2 is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).For a discussion of genetic heterogeneity of EMPF, see EMPF1 (OMIM ).

MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Is also known as leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT

Top 5 symptoms//phenotypes associated to Macrocephaly and Ophthalmoplegia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Facial palsy

Uncommon Symptoms - Between 30% and 50% cases

Ptosis

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly External ophthalmoplegia Dysphagia Polyhydramnios Ophthalmoparesis Muscle weakness High palate Myopathy Feeding difficulties Downslanted palpebral fissures Muscular hypotonia Long philtrum Talipes equinovarus Abnormal facial shape Micrognathia Failure to thrive Respiratory distress Hydrocephalus Short stature Respiratory failure Severe muscular hypotonia Paralysis Arachnodactyly Long face Pyloric stenosis Cryptorchidism Decreased fetal movement Areflexia Skeletal muscle atrophy Pain

Rare Symptoms - Less than 30% cases

Ataxia Inability to walk Tracheomalacia Cognitive impairment Facial paralysis Osteopetrosis Increased bone mineral density Aganglionic megacolon Hearing impairment Nystagmus Dental malocclusion Hypoplasia of the corpus callosum Visual loss Nocturnal hypoventilation Facial diplegia Hypoventilation Cleft palate Intellectual disability, severe Headache Hydronephrosis Blindness Hypertelorism Oculomotor nerve palsy Pierre-Robin sequence Ankylosis Dilatation Cerebral calcification Broad nasal tip Thin vermilion border Retrognathia Syndactyly Gastroesophageal reflux Absent speech Pectus excavatum Atrial septal defect Frontal bossing Ventriculomegaly Aortic valve stenosis Epicanthus Hypertension Depressed nasal bridge Hypoplasia of the brainstem Anteverted nares Lower limb muscle weakness Centrally nucleated skeletal muscle fibers Respiratory insufficiency Fatigue Gait disturbance Anemia Polyneuropathy Cavernous hemangioma Limb muscle weakness High forehead Easy fatigability Spontaneous abortion Progressive muscle weakness Open mouth Urinary incontinence Generalized muscle weakness Motor delay Spasticity Optic atrophy Apnea Strabismus Dolichocephaly Posteriorly rotated ears Conductive hearing impairment Skeletal dysplasia Hypothyroidism Brachycephaly Hyperreflexia Prominent forehead Severe short stature Camptodactyly Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus Clinodactyly Abnormality of cardiovascular system morphology Straight clavicles Paranasal sinus hypoplasia Cleft lip Hyperlordosis Abnormality of the dentition Intestinal malrotation Coarctation of aorta Oligohydramnios Narrow forehead Specific learning disability Wide intermamillary distance Abnormality of the skin Webbed neck Bifid uvula Craniosynostosis Delayed eruption of teeth High, narrow palate Thick vermilion border Flat face Cleft upper lip Anal atresia Broad forehead Microtia Intellectual disability, mild Broad clavicles Cerebellar atrophy Optic disc pallor Osteomyelitis Flared metaphysis Elevated alkaline phosphatase Coxa vara Hypocalcemia Bone marrow hypocellularity Epileptic encephalopathy Pancytopenia Hyperparathyroidism Decreased antibody level in blood Carious teeth Hepatosplenomegaly Acidosis Hypsarrhythmia Clonus Progressive external ophthalmoplegia Pathologic fracture Renal tubular acidosis Lumbar hyperlordosis Cataract Short neck Ventricular septal defect Abnormality of the skeletal system Myoclonus Wide nasal bridge Delayed speech and language development Low-set ears Neoplasm Retinal atrophy Sandwich appearance of vertebral bodies Secondary hyperparathyroidism Progressive macrocephaly Extramedullary hematopoiesis Tetany Hypertonia Choanal stenosis Encephalopathy Peripheral neuropathy Visual impairment Rough bone trabeculation High iliac wings Muscular hypotonia of the trunk Intellectual disability, moderate Polymicrogyria Unilateral facial palsy Fibular hypoplasia Tetraplegia Lissencephaly Optic nerve hypoplasia Craniofacial osteosclerosis Anal stenosis Congenital contracture Spastic diplegia Submucous cleft hard palate Natal tooth Thickened calvaria Partial agenesis of the corpus callosum Laryngeal web Misalignment of teeth Congenital fibrosis of extraocular muscles Fibular aplasia Flexion contracture of toe Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Alobar holoprosencephaly Laryngotracheomalacia Otosclerosis Delayed closure of the anterior fontanelle Large iliac wings White forelock Cerebellar hypoplasia Large forehead Broad ribs Thoracic dysplasia Ectopic anus Echolalia Agenesis of corpus callosum Cortical dysplasia Dysarthria Metaphyseal striations Osteopathia striata Spina bifida occulta Osteolysis Microretrognathia Narrow palate Sensory impairment Multicystic kidney dysplasia Spina bifida Abnormal vertebral morphology Cutaneous syndactyly Dental crowding Large fontanelles Omphalocele Abnormality of the metaphysis Decreased nerve conduction velocity Onion bulb formation Thick lower lip vermilion Holoprosencephaly Mutism Mixed hearing impairment Delayed cranial suture closure Visual field defect Glaucoma Hypoplastic left heart Facial hyperostosis Gait ataxia Dysphasia Aphasia Hyperostosis Brain atrophy Flat occiput Pes planus Nephroblastoma Overfolded helix Metaphyseal widening Increased susceptibility to fractures Nasal speech Distal sensory impairment Joint contracture of the hand Hyperinsulinemia Splenomegaly Weak cry Birth length greater than 97th percentile Slender toe Premature adrenarche Fractures of the long bones Diaphragmatic eventration Spherocytosis Head tremor Neck muscle weakness Hypokinesia Hepatic hemangioma Long fingers Mask-like facies Neonatal respiratory distress Myotonia Cholelithiasis Atrioventricular block Hemangioma Sleep apnea Respiratory failure requiring assisted ventilation Growth delay Nephrocalcinosis Heterotopia Glossoptosis Ulnar deviation of finger Restrictive ventilatory defect Bilateral talipes equinovarus Aplasia/Hypoplasia of the cerebellum Relative macrocephaly Cranial nerve paralysis Plagiocephaly Abnormal lung morphology Brachydactyly Tapered finger Talipes Abnormal cardiac septum morphology Hyperhidrosis Pneumonia Elevated serum creatine phosphokinase Hypospadias Short nose Accelerated skeletal maturation EMG abnormality Trismus EMG: myopathic abnormalities Drowsiness Thin ribs Muscle fibrillation Generalized amyotrophy Mildly elevated creatine phosphokinase Large for gestational age Calf muscle hypertrophy Skeletal muscle hypertrophy Delayed gross motor development Type 1 muscle fiber predominance Respiratory insufficiency due to muscle weakness Frequent falls Falls Peripheral axonal neuropathy Myalgia Proximal muscle weakness Difficulty walking Pes cavus Malignant hyperthermia Areflexia of lower limbs Narrow face Mandibular prognathia Decreased liver function Nephrolithiasis Hepatitis Hip dysplasia Waddling gait Abnormal bleeding Kyphoscoliosis Dyspnea Midface retrusion Exercise-induced myalgia Myopia Sleepy facial expression Abnormality of the foot musculature Macrocephaly at birth Neonatal asphyxia Proximal muscle weakness in upper limbs Proximal muscle weakness in lower limbs Restrictive deficit on pulmonary function testing Microglossia Flushing Hepatomegaly Growth hormone excess Abnormal thrombosis Bladder diverticulum Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Male hypogonadism Hiatus hernia Soft skin Pulmonary artery stenosis Aortic root aneurysm Galactorrhea Keratoconus Atrophic scars Blurred vision Impotence Epiphora Hyperglycemia Heart murmur Hyperextensible skin Rectal prolapse Secondary growth hormone deficiency Cutis laxa Cranial nerve VI palsy Aortic tortuosity Abnormality of hair density Telangiectases of the cheeks Internal ophthalmoplegia Curved fingers Generalized arterial tortuosity Soft, doughy skin Fourth cranial nerve palsy Decreased fertility in males Decreased fertility in females Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Female hypogonadism Sudden loss of visual acuity Decreased circulating ACTH level Decreased female libido Arterial tortuosity Ischemic stroke Aortic regurgitation Villous atrophy Congenital facial diplegia Umbilical hernia Osteopenia Macrotia Osteoporosis Inguinal hernia Hernia Vomiting Pectoralis hypoplasia Impaired ocular abduction Pallor Aplasia of the pectoralis major muscle Hypertensive crisis Glandular hypospadias Aplasia/Hypoplasia of the tongue Laryngeal stenosis Hypoplasia of the musculature Ulnar deviation of the hand Abnormality of the larynx Joint laxity Blepharophimosis Short chin Congenital diaphragmatic hernia Hypogonadotrophic hypogonadism Recurrent pneumonia Increased body weight Gynecomastia Diplopia Telangiectasia Thin skin Ventricular hypertrophy Amenorrhea Scarring Progressive visual loss Convex nasal ridge Hypotension Bruising susceptibility Vertigo Delayed puberty Pulmonic stenosis Pectus carinatum Stroke Brisk reflexes


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