Cataract, and Macroglossia

Diseases related with Cataract and Macroglossia

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


Top matches:

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1


Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


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' (van Reeuwijk et al., 2005).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, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1


Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Low match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Low match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Top 5 symptoms//phenotypes associated to Cataract and Macroglossia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cataract and Macroglossia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, severe Muscular hypotonia High forehead Myopia Wide nasal bridge Short neck Umbilical hernia Depressed nasal bridge Oral cleft Hernia Cleft lip Epicanthus Hypertelorism Protruding tongue Brachydactyly Congenital cataract Frontal bossing Ataxia Obesity Anteverted nares Malar flattening Thick lower lip vermilion Abnormality of the kidney Delayed eruption of teeth Microtia Wide mouth Strabismus Abnormal facial shape Polydactyly Posteriorly rotated ears Cognitive impairment Motor delay Cardiomyopathy Micrognathia Sensorineural hearing impairment Cleft palate Abnormality of the skeletal system Edema Hypoplasia of the corpus callosum Brachycephaly Coarse facial features Anemia Hypertension Flexion contracture Upslanted palpebral fissure High palate Hepatomegaly Hypothyroidism

Rare Symptoms - Less than 30% cases


Intellectual disability, moderate Neoplasm Low-set, posteriorly rotated ears Angiokeratoma corporis diffusum Long philtrum Congenital hypothyroidism Broad forehead Impaired pain sensation Patent ductus arteriosus Abnormality of the thyroid gland Broad palm Failure to thrive Growth abnormality Cryptorchidism Palpebral edema Gingival overgrowth Splenomegaly Joint laxity Hoarse voice Postaxial polydactyly Nephropathy Microdontia Neutropenia Widely spaced teeth Developmental regression Hydronephrosis Visual loss Hyperactivity Inguinal hernia Abnormality of metabolism/homeostasis Recurrent infections Behavioral abnormality Gait disturbance Delayed speech and language development Prominent forehead Nystagmus Mandibular prognathia Conductive hearing impairment Polyhydramnios Hepatosplenomegaly Single transverse palmar crease Synophrys Short palm Short distal phalanx of finger Overgrowth Nephrolithiasis Broad face Clinodactyly of the 5th finger Abnormal heart morphology Intellectual disability, progressive Abnormality of cardiovascular system morphology Short nose Abnormality of the dentition Everted upper lip vermilion Sinusitis Downslanted palpebral fissures Muscle weakness Retinal dystrophy Cleft upper lip Lissencephaly Cerebellar dysplasia Paresthesia Congenital muscular dystrophy Elevated serum creatine phosphokinase Anxiety Pachygyria Constipation Depressivity Feeding difficulties Muscular dystrophy Dilatation Respiratory distress Heterotopia Cerebellar hypoplasia Mental deterioration Ventriculomegaly Hydrocephalus Growth delay Respiratory insufficiency Depressed nasal ridge Intellectual disability, profound Kyphosis Blindness Dry skin Visual impairment Sleep disturbance Visceromegaly Adenoma sebaceum Beaking of vertebral bodies Facial edema Vacuolated lymphocytes Abnormal renal morphology Abnormality of the ovary Spondylolisthesis Flat face Hypoplastic frontal sinuses Short attention span Macroorchidism Deep palmar crease Anal atresia Cranial asymmetry Angiokeratoma Methemoglobinemia Spondylolysis Oligosacchariduria Angiofibromas Hypotrichosis Aspartylglucosaminuria Abnormality of the larynx Thick upper lip vermilion Duodenal atresia Bruxism Leukemia Dementia Narrow mouth Thrombocytopenia Paralysis Cavum septum pellucidum Myoclonus Platyspondyly Nyctalopia Erythema Premature atrial contractions Pelvic kidney Abnormality of upper lip Gait ataxia Morphological abnormality of the middle ear Recurrent respiratory infections Hyperacusis Delayed skeletal maturation Abnormal tracheobronchial morphology Midline brain calcifications Cerebral atrophy Abnormality of the forearm Diarrhea Head-banging Hyperreflexia Frequent temper tantrums Wide nose Ascites Dysostosis multiplex Hydrops fetalis Thickened calvaria Muscle fibrillation Recurrent ear infections Pathologic fracture Emotional lability Acne Velopharyngeal insufficiency Aspiration Chronic diarrhea Generalized myoclonic seizures Excessive daytime sleepiness Recurrent aspiration pneumonia Involuntary movements Mitral regurgitation Mood changes Progressive neurologic deterioration Psychosis Neuronal loss in central nervous system Gliosis Downturned corners of mouth Type II diabetes mellitus Chronic constipation Otitis media Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Retinal detachment Microcornea Full cheeks Shallow acetabular fossae Esotropia Abnormality of the cardiovascular system Transient myeloproliferative syndrome Absence of renal corticomedullary differentiation Duodenal stenosis Abnormality of the lymphatic system Decreased fetal movement Hypertriglyceridemia Broad-based gait Omphalocele Hypoplasia of dental enamel Stereotypy Crackles Brushfield spots Abnormal vertebral morphology Hyporeflexia Hyperlordosis Aggressive behavior Deeply set eye EEG abnormality Pes planus Gastroesophageal reflux Cerebral cortical atrophy Falls Pes cavus Small hand Round ear Areflexia Clinodactyly Midface retrusion Intrauterine growth retardation Peripheral neuropathy Low-set ears Pain Acute megakaryocytic leukemia Left-to-right shunt Myeloproliferative disorder Short middle phalanx of the 5th finger Self-mutilation Bilateral single transverse palmar creases Decreased fertility Hydroureter Alzheimer disease Cholelithiasis Breast carcinoma Renal hypoplasia/aplasia Sandal gap Narrow palate Impulsivity Self-injurious behavior Aganglionic megacolon Open mouth Open bite Progressive spastic paraplegia Abnormality of the immune system Lethargy Drowsiness Postural instability Overweight Atrioventricular canal defect Transposition of the great arteries Complete atrioventricular canal defect Hypoplastic iliac wing Increased body weight Hypercholesterolemia Abnormality of the outer ear Pulmonary edema Drooling Sacral dimple Hypoxemia Acute monocytic leukemia Senile plaques Double outlet right ventricle Poor suck Thickened nuchal skin fold Acute lymphoblastic leukemia Thrombocytosis Polycythemia Neurofibrillary tangles Abnormality of the urinary system Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Prematurely aged appearance Spasticity Generalized hypertrichosis Short proximal phalanx of finger Oligodontia Anterior hypopituitarism Hypothermia Abnormal eyelid morphology Prolonged neonatal jaundice Tracheoesophageal fistula Intestinal obstruction Abnormality of vision Goiter Anosmia Reduced tendon reflexes Primary hypothyroidism Abnormality of the hair Abnormality of epiphysis morphology Large fontanelles Abnormality of the face Hypotension Abdominal distention Feeding difficulties in infancy Abnormality of the eye Jaundice Pseudohypoparathyroidism Thyroid hypoplasia Arrhythmia Hypospadias Dental crowding Abnormality of the genital system Webbed neck Bruising susceptibility Talipes Neurological speech impairment Pectus carinatum Retrognathia Micropenis Talipes equinovarus Increased thyroid-stimulating hormone level Fatigue Ptosis Abnormality of reproductive system physiology Large posterior fontanelle Thyroid dysgenesis Compensated hypothyroidism Thyroid agenesis Abnormal pericardium morphology Ectopic thyroid Hoarse cry Hypogonadism Optic atrophy Spina bifida Hypoplastic scapulae Limb-girdle muscular dystrophy Inability to walk Severe global developmental delay Facial palsy Absent speech Skeletal muscle atrophy Externally rotated hips Achalasia Bulbar signs Mild global developmental delay Enlarged cisterna magna Generalized dystonia Neurodegeneration Micromelia Small for gestational age Kyphoscoliosis Immunodeficiency Intellectual disability, mild Dystonia Dysphagia Generalized amyotrophy Microphthalmia Moderate myopia Congenital glaucoma Persistent pupillary membrane Cerebellar cyst Type II lissencephaly Peters anomaly Buphthalmos Hypoplasia of the pons Retinal atrophy Abnormality of the periventricular white matter Spinal rigidity Skeletal muscle hypertrophy Glaucoma Hypoplasia of the brainstem Congenital contracture Aplasia/Hypoplasia of the corpus callosum Severe muscular hypotonia Encephalocele Cerebellar vermis hypoplasia Polymicrogyria Hypermetropia Abnormality of the cerebral white matter Neonatal hypotonia Short toe Polycystic kidney dysplasia Aplasia of the middle phalanx of the hand Stage 5 chronic kidney disease Recurrent urinary tract infections Renal dysplasia Cholestasis Sparse scalp hair Narrow forehead Bifid uvula Renal cyst Abnormality of skin pigmentation Retinal degeneration Smooth philtrum Exotropia Scarring Craniosynostosis Skeletal dysplasia Rod-cone dystrophy Pneumonia Renal insufficiency Mesiodens Short distal phalanx of toe Prominent eyelashes Short phalanx of finger Hepatic fibrosis Biliary atresia Recurrent lower respiratory tract infections Frontal upsweep of hair Accessory oral frenulum Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Scaphocephaly Wide anterior fontanel Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Nephronophthisis Short thorax Short femoral neck Cone-shaped epiphysis Trigonocephaly Cutis laxa Short ribs Aortic arch aneurysm Cavernous hemangioma Radial deviation of finger Flat forehead Protruding ear Macrotia Dyspnea Congestive heart failure Macrocephaly Neurocytoma Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Hypochromic anemia Bulbous nose Asymmetry of the thorax Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Myelomeningocele Underdeveloped supraorbital ridges Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Joint hypermobility Thick eyebrow Hyperextensibility of the finger joints Large for gestational age Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Aortic root aneurysm Pericardial effusion Anonychia Metaphyseal widening Hirsutism Hemangioma Spina bifida occulta Accelerated skeletal maturation Hemivertebrae Generalized hirsutism Thickened skin Hypertrichosis Small nail Bilateral sensorineural hearing impairment Thick vermilion border Sleep-wake inversion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Cerebellar hypoplasia, related diseases and genetic alterations Brachydactyly and Myelodysplasia, related diseases and genetic alterations High palate and Lymphedema, related diseases and genetic alterations Strabismus and Spasticity, related diseases and genetic alterations Micrognathia and Smooth philtrum, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more