Microphthalmia, and Babinski sign

Diseases related with Microphthalmia and Babinski sign

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


Top matches:

High match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

High match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1


Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

High match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

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High match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Medium match REFSUM DISEASE


Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

Medium match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54


Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54 Is also known as spg54

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Strabismus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54

Medium match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match CATARACT 11, MULTIPLE TYPES; CTRCT11


Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar.The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.'

CATARACT 11, MULTIPLE TYPES; CTRCT11 Is also known as cataract, posterior polar, 4|cpp4|ctpp4

Related symptoms:

  • Intellectual disability
  • Cataract
  • Blindness
  • Hypertonia
  • Microphthalmia


SOURCES: OMIM MESH MENDELIAN

More info about CATARACT 11, MULTIPLE TYPES; CTRCT11

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Top 5 symptoms//phenotypes associated to Microphthalmia and Babinski sign

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Cataract Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Microphthalmia and Babinski sign. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal pyramidal sign Ventriculomegaly Hypogonadism Peripheral neuropathy Strabismus Seizures Generalized hypotonia Microcornea Intellectual disability, severe Spasticity Congenital cataract Hypertonia Skeletal muscle atrophy Hypergonadotropic hypogonadism Pes cavus Hydrocephalus Anemia Hyporeflexia Scoliosis Micrognathia Nystagmus Cognitive impairment Ataxia Intellectual disability, mild Abnormality of the skeletal system Motor delay

Rare Symptoms - Less than 30% cases


Dilatation Cryptorchidism Dysarthria Short metacarpal Ptosis Elevated serum creatine phosphokinase Cerebellar hypoplasia Thick lower lip vermilion Microcephaly Growth delay Neoplasm Posterior polar cataract Nail dysplasia Recurrent infections Areflexia Developmental regression Metatarsus adductus Bilateral cryptorchidism Basal ganglia calcification Protruding ear High palate Clonus Polymicrogyria Dry skin Restlessness Knee flexion contracture Severe global developmental delay Ichthyosis Cardiomyopathy Downslanted palpebral fissures Polyneuropathy Hearing impairment Muscle weakness Abnormal facial shape Fever Talipes equinovarus Osteopenia Kyphosis Cerebral atrophy Osteoporosis Cerebral cortical atrophy Macrotia Brachycephaly Hypoplasia of the maxilla Camptodactyly of finger Chorea Respiratory insufficiency Pectus excavatum Spastic diplegia Hypoplasia of the corpus callosum Hypogonadotrophic hypogonadism Gait disturbance Splenomegaly Malar flattening Congestive heart failure Midface retrusion Low posterior hairline Prematurely aged appearance Hyperlordosis Postnatal growth retardation Short philtrum Pectus carinatum Talipes Epiphyseal dysplasia Peripheral axonal neuropathy Postnatal microcephaly Hypotelorism Short phalanx of finger Abnormality of the hand Abnormal dermatoglyphics Short palm Intellectual disability, progressive Lumbar hyperlordosis Everted lower lip vermilion Cardiac arrest Broad nasal tip Growth hormone deficiency Short toe Feeding difficulties in infancy Hemiplegia/hemiparesis Low-set, posteriorly rotated ears Panniculitis Skeletal dysplasia Abnormality of metabolism/homeostasis Renal insufficiency Visual impairment Muscular hypotonia Sensorineural hearing impairment Adipose tissue loss Finger swelling Stiff skin Episcleritis Erythema nodosum Retinopathy Hypochromic anemia Flexion contracture of toe Generalized lipodystrophy Immune dysregulation Clubbing of fingers Abnormally large globe Myositis Rimmed vacuoles Microcytic anemia Elevated erythrocyte sedimentation rate Abnormality of the eye Nyctalopia Intellectual disability, moderate Epicanthus Muscular hypotonia of the trunk Joint laxity Pes planus Micropenis Posteriorly rotated ears Severe short stature Recurrent respiratory infections Encephalopathy Long philtrum Optic atrophy Depressed nasal bridge Abnormality of eye movement Low-set ears Miosis Heart block Hammertoe Abnormality of vision Anosmia Abnormality of retinal pigmentation Abnormality of epiphysis morphology Progressive visual loss Abnormality of the foot Ulnar deviation of finger Dysphagia Thoracic scoliosis Porencephalic cyst Polar cataract Blindness Antenatal intracerebral hemorrhage Spastic hemiparesis Perivascular spaces Schizencephaly Pontocerebellar atrophy Hemianopia Primitive reflex Stroke-like episode Myopia Nuclear cataract Facial paralysis Transient ischemic attack Hypoplasia of the iris Posterior embryotoxon Limb dystonia Visual field defect Opisthotonus Cortical dysplasia Feeding difficulties Respiratory distress Cerebral hemorrhage Severe muscular hypotonia Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Aqueductal stenosis Hypoplasia of the pons Hypoplasia of the brainstem Congenital muscular dystrophy Lissencephaly Left ventricular hypertrophy Coloboma Pachygyria Ventricular hypertrophy Intellectual disability, profound High myopia Dandy-Walker malformation Retinal detachment Abnormality of skin pigmentation Abnormality of the cerebral white matter Muscular dystrophy Corneal opacity Dysphasia Intracranial hemorrhage Tracheomalacia Slender ulna Spastic gait Urinary incontinence Lower limb muscle weakness Paraplegia Spastic paraplegia Telecanthus Constipation Long fingers Hyperreflexia Prominent nipples Bowel incontinence Prominent antitragus Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Furrowed tongue Misalignment of teeth Abnormal toenail morphology Abnormality of the antihelix Optic nerve hypoplasia Progressive spasticity Hemiplegia Renal cyst Ischemic stroke Drooling Cerebral palsy Leukoencephalopathy Exotropia Hemiparesis Tetraparesis Mitral valve prolapse Muscle cramps Hematuria Abnormality of the periventricular white matter Hemolytic anemia Stroke Dystonia Cerebellar atrophy Contractures involving the joints of the feet Periventricular white matter hyperdensities Optic disc hypoplasia Tip-toe gait Periventricular leukomalacia Syringomyelia Hypermelanotic macule Motor tics Increased antibody level in blood Telangiectasia Squamous cell carcinoma Intestinal obstruction Erythroderma Abnormality of the thorax Brittle hair Dysphonia Macular degeneration Increased bone mineral density Chronic diarrhea Decreased fertility Abnormality of the face Fine hair Cutaneous photosensitivity Small nail Eczema Decreased antibody level in blood Asthma Malabsorption Nail dystrophy Basal cell carcinoma Freckling Sparse hair Trichorrhexis nodosa Myopathy Anteverted nares Macrocephaly Lack of subcutaneous fatty tissue Tiger tail banding Jerky ocular pursuit movements Abnormality of hair texture Titubation Corneal neovascularization Congenital ichthyosiform erythroderma Congenital nonbullous ichthyosiform erythroderma Pili torti Woolly hair Progeroid facial appearance Fragile nails IgG deficiency Alopecia of scalp Hyperactive deep tendon reflexes Keratoconjunctivitis sicca Small for gestational age Photophobia Agenesis of corpus callosum Sensory neuropathy Long eyelashes Split hand Primary amenorrhea Intention tremor Interphalangeal joint contracture of finger Amenorrhea Peripheral demyelination Decreased testicular size Small hand Postural tremor Paresthesia Dysmetria Myalgia Proximal muscle weakness Hypoglycemia Kyphoscoliosis Abnormality of the dentition Tremor Intrauterine growth retardation CNS hypomyelination Decreased motor nerve conduction velocity Retrognathia Abnormality of the cervical spine Hyperkeratosis Pneumonia Alopecia Delayed speech and language development Peripheral hypomyelination Acute rhabdomyolysis Upper limb postural tremor Malar prominence Recurrent myoglobinuria Motor polyneuropathy Axonal degeneration Abnormality of peripheral nerve conduction Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Malignant hyperthermia Myoglobinuria Axonal loss Rhabdomyolysis Secondary amenorrhea Behavioral abnormality Diabetes mellitus Glucose intolerance Posterior scalloping of vertebral bodies Edema Hepatomegaly Pain Failure to thrive Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Torus palatinus Arrhythmia Basilar impression Absent axillary hair Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Thrombocytopenia Hyperhidrosis Broad face Prominent nose Lipodystrophy Growth abnormality Conjunctivitis Elbow flexion contracture Lymphopenia Bone pain Hyperpigmentation of the skin Hypertriglyceridemia Cardiomegaly Macroglossia Arthralgia Inability to walk Lymphadenopathy Skin rash Scarring Abnormality of the liver Erythema Arthritis Elevated hepatic transaminase Hepatosplenomegaly Dystrophic fingernails Progressive gait ataxia Gait ataxia Genu valgum Cerebral calcification Hip dysplasia Otitis media Nevus Neurodegeneration Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Narrow chest Sparse scalp hair Synophrys Broad forehead Prominent nasal bridge Aggressive behavior Conductive hearing impairment Deeply set eye Hypothyroidism Narrow mouth Autism Bradykinesia Abnormal form of the vertebral bodies Thoracic kyphosis Truncal obesity Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Ankle clonus Mixed hearing impairment Anonychia Thickened skin Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Paraparesis Gynecomastia Severe hydrocephalus



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