Microphthalmia, and Difficulty walking

Diseases related with Microphthalmia and Difficulty walking

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


Top matches:

High match CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2


Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2 Is also known as charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2|cmt4b2|charcot-marie-tooth neuropathy, type 4b2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Visual impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

High match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Medium match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

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Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58


EIEE58 is a severe neurodevelopmental disorder characterized by onset of refractory seizures in the first days or months of life. Affected individuals have global developmental delay with intellectual disability, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, and spasticity (summary by Hamdan et al., 2017).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, 58; EIEE58

Medium match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Medium match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW


NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Medium match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) 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. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012).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, 10; MDDGA10 Is also known as walker-warburg syndrome or muscle-eye-brain disease, tmem5-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cataract
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG


For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

Low match OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME


Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Difficulty walking

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Microphthalmia and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Visual impairment Seizures Pes cavus Short stature Nystagmus Hydrocephalus Ataxia Spasticity Hyporeflexia Strabismus Muscle weakness Tremor Growth delay Atrial septal defect Talipes equinovarus Inability to walk Retinal dysplasia Congenital cataract Kyphoscoliosis Glaucoma Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Wide nose Erythema Infantile spasms Sensorineural hearing impairment Intention tremor Pigmentary retinopathy Hypopigmentation of the skin Falls Agenesis of corpus callosum Absent speech Optic nerve hypoplasia Wide nasal bridge Ventriculomegaly Coloboma Abnormality of cardiovascular system morphology Blindness Cutaneous photosensitivity Ventricular septal defect Feeding difficulties Stereotypy Abnormal heart morphology Abnormal facial shape Intrauterine growth retardation Corneal opacity Optic atrophy Delayed myelination Multiple lipomas Broad-based gait Gait ataxia Macrocephaly Sensory neuropathy Micropenis Congenital glaucoma Mental deterioration Foot dorsiflexor weakness Anophthalmia Peripheral demyelination Distal sensory impairment Occipital encephalocele Distal amyotrophy Encephalocele Distal muscle weakness Areflexia Visual loss Peripheral neuropathy Albinism Hyperpigmentation of the skin Hypogonadism Scoliosis Upslanted palpebral fissure Status epilepticus Abnormality of the skeletal system Amblyopia Micrognathia Motor delay Facial cleft Clinodactyly Anemia Splenomegaly Anterior basal encephalocele Facial hypotonia Poor eye contact Single transverse palmar crease Hypoplasia of the corpus callosum Overlapping toe Dystonia Tapered finger Immunodeficiency Mild microcephaly Deeply set eye Happy demeanor Hepatomegaly Drooling Bruxism Cerebellar vermis hypoplasia Cerebellar atrophy Unsteady gait Neoplasm Edema Hip dysplasia Gait disturbance Hypermetropia Skeletal muscle atrophy Fever Abnormality of the pinna Agenesis of cerebellar vermis Midline facial cleft Scrotal hypoplasia Lipoma Median cleft lip Partial agenesis of the corpus callosum Adrenal insufficiency Diabetes insipidus Radial deviation of finger Preaxial polydactyly Easy fatigability Joint contracture of the hand Coronal craniosynostosis Preauricular skin tag Lymphedema Long eyelashes Abnormality of the face Heterotopia Abnormality of the genital system Fine hair Oligohydramnios Meningocele Short columella Pectoral muscle hypoplasia/aplasia Median cleft palate Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Parietal foramina Calvarial skull defect Broad columella Bifid nose Thrombocytopenia Broad philtrum Alopecia totalis Bifid nasal tip Conical tooth Preaxial foot polydactyly Widow's peak Recurrent infections Abnormality of extrapyramidal motor function Recurrent respiratory infections Generalized hypopigmentation of hair Atrophy/Degeneration affecting the brainstem Gonadal dysgenesis Large for gestational age Congenital muscular dystrophy Lissencephaly Pachygyria Intellectual disability, profound Muscular dystrophy Recurrent systemic pyogenic infections Type II lissencephaly Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Cerebellar dysplasia Small for gestational age Progressive peripheral neuropathy Metaphyseal widening Severe platyspondyly Phthisis bulbi Iris atrophy Retinoblastoma Vitreous hemorrhage Glioma Barrel-shaped chest Vitreoretinopathy Pathologic fracture Increased susceptibility to fractures Neoplasm of the skin Recurrent fractures Joint hypermobility Platyspondyly Joint laxity Osteopenia Osteoporosis Muscular hypotonia Defective DNA repair after ultraviolet radiation damage Bilateral microphthalmos Hypersplenism Hemophagocytosis Reduced visual acuity Paresthesia Lymphoma Brain atrophy Parkinsonism Abnormal bleeding Neutropenia Neurodegeneration Bruising susceptibility Peripheral axonal neuropathy Lymphadenopathy Paraplegia Bradykinesia Abnormality of movement Spastic paraplegia Leukemia Developmental regression Abnormality of the eye Rigidity Photophobia Hepatosplenomegaly Jaundice Gastrointestinal hemorrhage Tetralogy of Fallot Spinocerebellar tract degeneration Resting tremor White hair Generalized hypopigmentation Fair hair Periodontitis Gingivitis Iris hypopigmentation Gingival bleeding Hypopigmentation of hair Generalized hyperpigmentation Sensory axonal neuropathy Pancytopenia Cerebral hemorrhage Melanocytic nevus Decreased nerve conduction velocity Abnormality of vision Cranial nerve paralysis Leukopenia Skin ulcer Hypertriglyceridemia Epistaxis Postaxial hand polydactyly Hypertelorism Decreased testicular size Cardiomyopathy Respiratory failure Severe short stature Arrhythmia Hypospadias Hernia Abnormality of metabolism/homeostasis Midface retrusion Syndactyly Respiratory distress Retrognathia Failure to thrive Enlarged interhemispheric fissure Speech articulation difficulties Thick hair Prolactin excess Mitochondrial myopathy Poor coordination Hyperthyroidism Dyspnea Hypertrophic cardiomyopathy Increased variability in muscle fiber diameter Specific learning disability Abnormality of dental enamel Abnormality of the nail Cafe-au-lait spot Abnormality of retinal pigmentation Mitral regurgitation Congenital diaphragmatic hernia Ambiguous genitalia Mitral valve prolapse Retinal dystrophy Blepharophimosis Iris coloboma Tachycardia Abnormality of skin pigmentation Anal atresia Nail dystrophy Dilated cardiomyopathy Skin rash Abnormal cardiac septum morphology Myopathic facies Gowers sign Sacral dimple Decreased number of peripheral myelinated nerve fibers Myelin outfoldings Ulnar claw Segmental peripheral demyelination/remyelination Buphthalmos Increased intraocular pressure Abnormal cranial nerve morphology Megalocornea Onion bulb formation Decreased motor nerve conduction velocity Delayed speech and language development Steppage gait Hammertoe Sensorimotor neuropathy Split hand Lower limb muscle weakness Abnormality of the foot Limb muscle weakness Pain High palate Myopathy Dysdiadochokinesis Long face Schizophrenia Truncal ataxia Limb ataxia Frequent falls Primary amenorrhea Amenorrhea Sensory impairment Small hand Dysmetria Depressivity Retinopathy Pallor Anxiety Myalgia Mandibular prognathia Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Pectus excavatum Intellectual disability, progressive Hypopigmented skin patches Dandy-Walker malformation Spastic diplegia Frontal bossing Brachydactyly Epicanthus Depressed nasal bridge Low-set ears Ptosis Cryptorchidism Cleft palate Postnatal microcephaly Long philtrum Hypsarrhythmia Epileptic encephalopathy EEG abnormality Intellectual disability, severe Hyperreflexia Anal fistula Asymmetric, linear skin defects Cleft earlobe Anteverted nares Dilatation Vitritis Hypotrichosis Growth hormone deficiency Underdeveloped nasal alae Broad nasal tip Hypoplasia of the maxilla Postural instability Postaxial polydactyly Oral cleft Talipes Craniosynostosis Alopecia Camptodactyly Intellectual disability, moderate Cleft lip Telecanthus Conductive hearing impairment Hypothyroidism Polydactyly Brachycephaly Abnormality of the rectum Histiocytoid cardiomyopathy Mutism Abnormality of the ear Male pseudohermaphroditism Abnormal eyelash morphology Posterior embryotoxon Anencephaly Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Aplasia/Hypoplasia of the skin Hypoplasia of the uterus Ocular albinism Dysphasia Aphasia Preauricular pit Tricuspid regurgitation Ventricular fibrillation Clitoral hypertrophy Patent foramen ovale Dermal atrophy Sclerocornea Abnormal eyelid morphology Orbital cyst Overriding aorta Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Mandibular aplasia Abnormality of the anus Echolalia Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Colpocephaly Abnormality of the testis Supraventricular tachycardia Absent anterior chamber of the eye



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