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; CMT4B2

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; CMT4B2 Is also known as charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2, charcot-marie-tooth neuropathy, type 4b2;cmt4b2

Related symptoms:

  • Autosomal recessive inheritance
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Visual impairment


SOURCES: MESH SCTID UMLS OMIM ORPHANET MONDO GARD DOID

More info about CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2

Medium match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1

The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects--which are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas--in affected females and in utero lethality for males (Wimplinger et al., 2006). Genetic Heterogeneity of Linear Skin Defects with Multiple Congenital AnomaliesAlso see LSDMCA2 (OMIM ), caused by mutation in the COX7B gene (OMIM ) on Xq21, and LSDMCA3 (OMIM ), caused by mutation in the NDUFB11 gene (OMIM ) on Xp11.3.

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1 Is also known as microphthalmia, syndromic 7;mcops7, microphthalmia with linear skin defects;mls, microphthalmia, dermal aplasia, and sclerocornea, midas syndrome;mcops7; midas syndrome; mls syndrome; microphthalmia-dermal aplasia-sclerocornea syndrome; syndromic microphthalmia type 7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: MONDO OMIM UMLS SCTID ORPHANET

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1

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
  • Pica


SOURCES: OMIM

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

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Other less relevant matches:

Medium match CHEDIAK-HIGASHI SYNDROME; CHS

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.

CHEDIAK-HIGASHI SYNDROME; CHS Is also known as ;chédiak-higashi disease; chédiak-higashi-steinbrink syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO MESH NCIT OMIM UMLS ICD10 SCTID ORPHANET

More info about CHEDIAK-HIGASHI SYNDROME; CHS

Low match OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG

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; OPPG Is also known as ops, osteogenesis imperfecta, ocular form;oppg; ocular form of osteogenesis imperfecta

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM NCIT MONDO ORPHANET MESH SCTID GARD DOID UMLS

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG

Low match SPONDYLOOCULAR SYNDROME; SOS

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

SPONDYLOOCULAR SYNDROME; SOS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: UMLS ORPHANET MONDO OMIM SCTID

More info about SPONDYLOOCULAR SYNDROME; SOS

Low match SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD

Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction (summary by Hoover-Fong et al., 2014).Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs observed in the first year of life, whereas retinal dystrophy had a more variable age of onset. There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence.

SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD Is also known as ;smd-crd

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pica
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MONDO UMLS GARD

More info about SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008).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, 4; MDDGA4 Is also known as fukuyama congenital muscular dystrophy;fcmd, walker-warburg syndrome or muscle-eye-brain disease, fktn-related;fcmd; fukuyama congenital muscular dystrophy

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO UMLS SCTID ORPHANET DOID NCIT OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4

Low match CHROMOSOME 3q29 DELETION SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q subtelomere deletion syndrome; 3qter deletion; del(3)(q29); monosomy 3q29; monosomy 3qter

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: OMIM MONDO ORPHANET UMLS SCTID MESH GARD DOID

More info about CHROMOSOME 3q29 DELETION SYNDROME

Low match ANIRIDIA 1; AN1

Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (summary by Jordan et al., 1992). Genetic Heterogeneity of AniridiaThere is also evidence that aniridia-2 (AN2) is caused by mutation in a PAX6 cis-regulatory element (SIMO) that resides in an intron of the adjacent ELP4 gene (OMIM ), and that aniridia-3 (AN3) is caused by mutation in the TRIM44 gene (OMIM ) on chromosome 11p13.See also Gillespie syndrome (OMIM ), in which aniridia is associated with cerebellar ataxia and mental retardation.

ANIRIDIA 1; AN1 Is also known as an, aniridia ii, formerly;an2, formerly;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: ORPHANET MONDO ICD10 OMIM

More info about ANIRIDIA 1; AN1

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Pica Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Cataract

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Nystagmus Glaucoma Visual loss Microcephaly Short stature Atrial septal defect Congenital cataract Amblyopia Seizures Hearing impairment Muscle weakness Coma Albinism Sensorineural hearing impairment Myopia Platyspondyly Iris hypopigmentation Blindness Retinal dysplasia Agenesis of corpus callosum Hypopigmentation of the skin Retinal detachment Gait ataxia Gait disturbance Rigidity Ataxia Areflexia Milia Ventricular septal defect

Rare Symptoms - Less than 30% cases


High palate Muscular hypotonia Pulmonic stenosis Joint laxity Osteoporosis Mitral valve prolapse Osteopenia Clinodactyly Abnormality of skin pigmentation Dilated cardiomyopathy Abnormal cardiac septum morphology Corneal opacity Abnormality of the pinna Coloboma Tremor Talipes equinovarus Hyperpigmentation of the skin Falls Motor delay Macrocephaly Autosomal dominant inheritance Pectus excavatum Macrotia Hyperactivity Brain atrophy Intellectual disability, moderate Anencephaly Attention deficit hyperactivity disorder Hypoplasia of the corpus callosum Ectopia pupillae Anophthalmia Preauricular pit Peripheral neuropathy Macular hypoplasia Dental crowding Spasticity Optic atrophy Metaphyseal widening Ventriculomegaly Delayed speech and language development Anal atresia Increased susceptibility to fractures Buphthalmos Pes cavus Failure to thrive Micrognathia Growth delay Kyphoscoliosis Hypermetropia Reduced visual acuity Kyphosis Depressivity Posteriorly rotated ears Facial hypotonia Neoplasm Hyperlordosis Pectus carinatum Joint hyperflexibility Skeletal muscle atrophy Foot dorsiflexor weakness Scoliosis Peripheral demyelination Sensory neuropathy Myopathy Photophobia Recurrent otitis media Severe platyspondyly Cerebellar vermis hypoplasia Hypospadias Severe short stature Hypogonadism Polymicrogyria Hyporeflexia Hernia Stereotypy Respiratory distress Single transverse palmar crease Micropenis Optic nerve hypoplasia Hydrocephalus Hypertelorism Tapered finger Low-set ears Congenital hip dislocation Dolichocephaly Elevated serum creatine phosphokinase Preauricular skin tag Intellectual disability, severe Infantile onset EMG abnormality Respiratory insufficiency Oxycephaly Dilatation Cerebellar hypoplasia Brachycephaly Abnormal cerebellum morphology EEG abnormality Camptodactyly of finger Apnea Hip dislocation Arthrogryposis multiplex congenita Pachygyria Encephalocele Generalized muscle weakness Abnormality of the cerebral white matter Muscular dystrophy Dysplastic aortic valve High hypermetropia Intrauterine growth retardation Thickened helices Metaphyseal dysplasia Short finger Cone/cone-rod dystrophy Coxa vara Rhizomelia Bowing of the long bones Progressive visual loss Limb undergrowth Abnormality of the ribs Dental malocclusion Waddling gait Short metacarpal Metaphyseal irregularity Astigmatism Shield chest Long toe Unilateral cryptorchidism Abnormality of the intervertebral disk Short palm Nyctalopia Postnatal growth retardation Joint stiffness Pneumonia Brachydactyly Aplasia/Hypoplasia of the lens Retinal atrophy Tibial bowing Flexion contracture Spondylometaphyseal dysplasia Bladder stones Hypoplastic inferior ilia Tibial torsion Large central visual field defect Enchondroma Cupped ribs Decreased hip abduction Retinal thinning Abnormality of macular pigmentation Narrow greater sacrosciatic notches Cone dysfunction syndrome Limited elbow movement Flared metaphysis Metaphyseal cupping Enlarged joints Peripheral visual field loss Beaking of vertebral bodies Ovoid vertebral bodies Optic nerve coloboma Thoracic scoliosis Left hemiplegia Bowing of the legs Macular atrophy Abnormality of color vision Femoral bowing Bradycardia Cerebellar cyst Knee flexion contracture Depressed nasal bridge Choanal atresia Microcornea Arachnodactyly Smooth philtrum Muscular hypotonia of the trunk Hypothyroidism High forehead Diabetes mellitus Renal insufficiency Hypertonia Anteverted nares Pain Cryptorchidism Exotropia Ptosis Six lumbar vertebrae Subvalvular aortic stenosis Broad face Bipolar affective disorder Shallow orbits Nasal speech Aspiration Sandal gap Horseshoe kidney Anorexia Narrow face Renal dysplasia Recurrent urinary tract infections Pulmonary arterial hypertension Hyposmia Aplasia/Hypoplasia of the macula Aphakia Hypoplasia of the olfactory bulb Ocular pain Vascular tortuosity Central adrenal insufficiency Retinal vascular tortuosity Lumbar kyphosis Central hypothyroidism Lower limb hypertonia Peters anomaly Decreased light- and dark-adapted electroretinogram amplitude Action tremor Opacification of the corneal stroma Limb hypertonia Hypoplasia of the iris Hand tremor Hypoplasia of the fovea Aniridia Hypopituitarism Adrenal insufficiency Bilateral ptosis Nephroblastoma Ectopia lentis Anosmia Narrow palate Aortic valve stenosis Otitis media Hemivertebrae Multiple joint contractures Lobar holoprosencephaly Myocardial fibrosis Exaggerated startle response Auricular tag Type II lissencephaly Cerebellar dysplasia Vertebral compression fractures Ankle contracture Weak cry Transposition of the great arteries Atrophy/Degeneration affecting the brainstem Spinal rigidity Generalized amyotrophy Hypoplasia of the pyramidal tract Cortical dysplasia Cephalocele Congenital muscular dystrophy Calf muscle hypertrophy Increased variability in muscle fiber diameter Hypoplasia of the brainstem Skeletal muscle hypertrophy Mask-like facies Holoprosencephaly Lissencephaly Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Psychosis Thin upper lip vermilion Oral cleft Prominent nose Everted lower lip vermilion Long face Facial asymmetry Cleft lip Small for gestational age Prominent nasal bridge Short philtrum Anxiety Sporadic Aggressive behavior Gastroesophageal reflux Cognitive impairment Autism Abnormality of the genital system Patent ductus arteriosus Clinodactyly of the 5th finger Inguinal hernia Behavioral abnormality Abnormality of the dentition Short nose Frontal bossing Downslanted palpebral fissures Hypertension Epicanthus Capsular cataract Generalized hypopigmentation of hair Disproportionate short-trunk short stature Aplasia/Hypoplasia of the skin Sclerocornea Male pseudohermaphroditism Abnormality of the eyelashes Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Ventricular fibrillation Tricuspid regurgitation Hypoplasia of the uterus Aphasia Dysphasia Ocular albinism Papilloma Abnormality of the ear Clitoral hypertrophy Hamartoma Cafe-au-lait spot Mutism Patent foramen ovale Dermal atrophy Sacral dimple Hypopigmented skin patches Abnormality of dental enamel Abnormal eyelid morphology Echolalia Intellectual disability, progressive Ovotestis Abnormality of the rectum Histiocytoid cardiomyopathy Vitritis Orbital cyst Arteria lusoria Chorioretinal dysplasia Abnormal vitreous humor morphology Overriding aorta Mandibular aplasia Abnormality of the fallopian tube Functional motor deficit Abnormality of the penis Posterior embryotoxon Abnormality of the anus Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Supraventricular tachycardia Abnormality of earlobe Colpocephaly Chordee Periventricular leukomalacia Abnormality of the testis Auricular pit Macule Abnormality of the nail Cleft earlobe Steppage gait Nevus Myelin outfoldings Ulnar claw Segmental peripheral demyelination/remyelination Increased intraocular pressure Abnormal cranial nerve morphology Megalocornea Congenital glaucoma Onion bulb formation Decreased number of peripheral myelinated nerve fibers Decreased motor nerve conduction velocity Wide nasal bridge Hammertoe Sensorimotor neuropathy Split hand Juvenile onset Distal amyotrophy Abnormality of the foot Distal sensory impairment Lower limb muscle weakness Limb muscle weakness Distal muscle weakness Heterogeneous Feeding difficulties Tics Mitral regurgitation Skin rash Abnormality of retinal pigmentation Status epilepticus X-linked dominant inheritance Ambiguous genitalia Pigmentary retinopathy Congenital diaphragmatic hernia Specific learning disability Tachycardia Retinal dystrophy Wide nose Iris coloboma Blepharophimosis Cardiomyopathy Hypertrophic cardiomyopathy Dyspnea Abnormal heart morphology Respiratory failure Retrognathia Erythema Syndactyly Midface retrusion Arrhythmia Abnormality of cardiovascular system morphology Abnormality of metabolism/homeostasis Anal fistula Asymmetric, linear skin defects Posterior subcapsular cataract Recurrent bacterial skin infections Recurrent fractures Joint hypermobility Intellectual disability, mild Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Partial albinism Pathologic fracture Progressive peripheral neuropathy Hypersplenism Hemophagocytosis Spinocerebellar tract degeneration White hair Generalized hypopigmentation Periodontitis Fair hair Gingivitis Gingival bleeding Hypopigmentation of hair Inability to walk Glioma Generalized hyperpigmentation Webbed neck Thoracic kyphosis Abnormality of the antihelix Abnormal eyebrow morphology Subcapsular cataract Long fingers Hemiplegia Hyperextensible skin Accelerated skeletal maturation Decreased body weight Lumbar hyperlordosis Low posterior hairline Unsteady gait Barrel-shaped chest Thin vermilion border Pes planus Long philtrum Short neck Absent anterior chamber of the eye Congenital visual impairment Phthisis bulbi Iris atrophy Vitreoretinopathy Retinoblastoma Vitreous hemorrhage Intestinal bleeding Resting tremor Abnormality of the skeletal system Splenomegaly Abnormality of the eye Mental deterioration Hepatosplenomegaly Jaundice Recurrent infections Immunodeficiency Recurrent respiratory infections Thrombocytopenia Cerebellar atrophy Fever Edema Hepatomegaly Ranula Anemia Happy demeanor Mild microcephaly Bruxism Overlapping toe Drooling Hip dysplasia Delayed myelination Absent speech Upslanted palpebral fissure Dystonia Developmental regression Spastic paraplegia Sensory axonal neuropathy Neurodegeneration Cerebral hemorrhage Melanocytic nevus Decreased nerve conduction velocity Leukopenia Abnormality of vision Cranial nerve paralysis Skin ulcer Pancytopenia Hypertriglyceridemia Abnormality of extrapyramidal motor function Epistaxis Lymphoma Abnormality of movement Bradykinesia Gastrointestinal hemorrhage Paresthesia Abnormal bleeding Parkinsonism Paraplegia Neutropenia Bruising susceptibility Leukemia Peripheral axonal neuropathy Lymphadenopathy Hypoplasia of the antihelix



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