Cataract, and Synophrys

Diseases related with Cataract and Synophrys

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


Top matches:

Medium match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Medium match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Medium match BRANCHIOSKELETOGENITAL SYNDROME


Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRANCHIOSKELETOGENITAL SYNDROME

Medium match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Medium 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

Medium match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Low 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

Low match ACROOSTEOLYSIS


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Top 5 symptoms//phenotypes associated to Cataract and Synophrys

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Anteverted nares Midface retrusion Hernia Generalized hypotonia Narrow mouth Short neck Micrognathia Malar flattening Patent ductus arteriosus Thickened skin Brachydactyly Broad forehead Kyphosis Thin vermilion border Short distal phalanx of finger Ataxia Mandibular prognathia Congenital cataract Downturned corners of mouth Thick eyebrow Pectus carinatum Umbilical hernia Seizures Wide nasal bridge Hypertelorism Recurrent infections Hypogonadism Cleft palate Cryptorchidism Macrocephaly High palate Inguinal hernia Hypospadias Splenomegaly Hydrocephalus Osteopenia Osteoporosis Coloboma Mixed hearing impairment Failure to thrive Nystagmus Abnormality of the skeletal system Intellectual disability, severe Delayed eruption of teeth Micropenis Hypoplasia of the corpus callosum Ptosis Dysarthria Delayed puberty Gait ataxia Osteolysis Low anterior hairline Wide nose Telecanthus Low-set ears Microcephaly Abnormality of the dentition Joint hypermobility Muscular hypotonia Iris coloboma Broad nasal tip Coarse facial features Generalized hirsutism Hypergonadotropic hypogonadism Long philtrum Myopia Sensorineural hearing impairment Anemia Dental malocclusion Hepatomegaly Hypoplasia of the maxilla Deeply set eye

Rare Symptoms - Less than 30% cases


Flexion contracture Patellar dislocation Thick vermilion border Biconcave vertebral bodies Mitral stenosis Decreased skull ossification Periodontitis Multiple renal cysts Cardiomyopathy Hypertrichosis Syringomyelia Prominent occiput Open bite Abnormality of the voice Truncal obesity Platybasia Bilateral cryptorchidism Gait disturbance Partial absence of toe Areflexia Protruding ear Hypoplastic 5th lumbar vertebrae Neoplasm Thick lower lip vermilion High forehead Arnold-Chiari malformation Hypertonia Severe short stature Absent frontal sinuses Rough bone trabeculation Short philtrum Bradykinesia Coarse hair Abnormality of the fingernails Brachycephaly Dolichocephaly Ventricular septal defect Progressive cerebellar ataxia Headache Recurrent respiratory infections Abnormal pyramidal sign Diabetes mellitus Prominent nasal bridge Anonychia Pes cavus Macrotia Hip dysplasia Skeletal dysplasia Arthralgia Skeletal muscle atrophy Joint hyperflexibility Dystrophic fingernails Babinski sign Rigidity Dry skin Recurrent fractures Full cheeks Intestinal malrotation Bowing of the long bones Bone pain Hypertension Short toe Hypothyroidism Aortic valve stenosis Skin ulcer Wormian bones Myopathy Intellectual disability, moderate Posteriorly rotated ears Cerebral cortical atrophy Limb ataxia Flat face Bifid uvula Corneal opacity Muscular dystrophy Neurological speech impairment Cerebellar hypoplasia Postural tremor Cerebral atrophy Intellectual disability, mild Cerebellar atrophy Tremor Optic atrophy Cognitive impairment Broad distal phalanx of finger Slurred speech Apraxia Conductive hearing impairment Delayed speech and language development Visual impairment Clinodactyly Thin upper lip vermilion Pes planus Pectus excavatum Microphthalmia Basilar impression Hemivertebrae Intellectual disability, progressive Calcification of the auricular cartilage Hepatosplenomegaly Accelerated skeletal maturation Superiorly displaced ears Spina bifida occulta Polyhydramnios Dyspnea Polydactyly Increased size of the mandible Wide mouth Gingival overgrowth Posterior scalloping of vertebral bodies Bulbous nose Absent facial hair Motor tics Hirsutism Macroglossia Overgrowth Nephrolithiasis Pain Bilateral sensorineural hearing impairment Intellectual disability, profound Small nail Torus palatinus Dilatation Glomerulonephritis Joint laxity High pitched voice Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Cortical gyral simplification Ectopic kidney Sensory axonal neuropathy Misalignment of teeth Basilar invagination Unilateral renal agenesis Dysdiadochokinesis Goiter Leukopenia Acanthosis nigricans Short chin Low hanging columella Shuffling gait Congestive heart failure Delayed cranial suture closure Abnormality of the kidney Respiratory tract infection Paresthesia Hematuria Polycystic kidney dysplasia Hemangioma Osteolytic defects of the phalanges of the hand Chronic lung disease Respiratory arrest Flank pain Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Premature loss of permanent teeth Absent axillary hair Narrow iliac wings Growth abnormality Abnormal palate morphology Hypoplasia of the zygomatic bone Abnormality of the skull Paraparesis Knee flexion contracture Spastic paraparesis Plagiocephaly Schizophrenia Gynecomastia Self-injurious behavior Melanocytic nevus Metatarsus adductus Ankle clonus Basal ganglia calcification Sparse body hair Clonus Abnormal form of the vertebral bodies Hip contracture Narrow chest Behavioral abnormality Agenesis of corpus callosum Autism Aggressive behavior Developmental regression Lymphopenia Genu valgum Sparse scalp hair Distal amyotrophy Neurodegeneration Abnormality of the mandible Nevus Otitis media Cerebral calcification Congenital hypothyroidism Striae distensae Metaphyseal widening Thin bony cortex Bone cyst Recurrent ear infections Ectopic calcification Gingival fibromatosis Long penis Colpocephaly Broad ribs Tics Protruding tongue Aortic root aneurysm Pericardial effusion Abnormal glucose tolerance Large for gestational age Posterior polar cataract Generalized osteoporosis Broad face Abnormality of cardiovascular system morphology Aortic arch aneurysm Restlessness Insulin-resistant diabetes mellitus Irregular vertebral endplates Mesiodens Short distal phalanx of toe Prominent eyelashes Everted upper lip vermilion Progressive gait ataxia Generalized hypertrichosis Poor coordination Biliary atresia Cavernous hemangioma Thoracic kyphosis Hyperextensibility of the finger joints Bone marrow hypocellularity Cubitus valgus Insulin resistance Hypoplasia of the fovea Syndactyly Depressed nasal bridge Frontal cortical atrophy Truncal titubation Craniofacial asymmetry Scanning speech Abnormality of the pulmonary artery Titubation Speech apraxia Hearing abnormality Proptosis Hypoplasia of the iris Aniridia Brisk reflexes Mask-like facies Bilateral ptosis Poor head control Involuntary movements Abnormal cerebellum morphology Hypopigmentation of the skin Glaucoma Low-set, posteriorly rotated ears Unsteady gait Thickened calvaria Cleft soft palate Concave nasal ridge Large earlobe Eyelid coloboma Thoracolumbar scoliosis Megalocornea Premature loss of teeth Submucous cleft hard palate Anteriorly placed anus Abnormality of the vertebral column Craniosynostosis Keratitis Bifid scrotum Cutaneous syndactyly Pointed chin Narrow forehead Wide intermamillary distance Highly arched eyebrow Facial asymmetry Carious teeth High, narrow palate Abnormality of movement Prominent nasal tip Anophthalmia Abnormality of the sense of smell Lacrimal duct stenosis Diastema Hypoplasia of teeth Lacrimation abnormality Hyposmia Hypoplastic labia majora Agenesis of permanent teeth Preauricular pit Limb-girdle muscular dystrophy Frontal encephalocele Reduced number of teeth Anosmia Scrotal hypoplasia Hypogonadotrophic hypogonadism Encephalocele Choanal atresia Primary amenorrhea Cleft lip Edema Aplasia/Hypoplasia involving the nose Aplasia of the nose Pulmonic stenosis Severe sensorineural hearing impairment Muscular hypotonia of the trunk Neonatal hypotonia Reduced visual acuity Absent speech Motor delay Cleft hard palate Mild conductive hearing impairment Elliptocytosis Large forehead Patent foramen ovale Absent paranasal sinuses Hypercalciuria Nephrocalcinosis Finger clinodactyly Dental crowding Renal dysplasia Esotropia Talipes Hydronephrosis Clinodactyly of the 5th finger Talipes equinovarus Absent nipple Abnormality of the cervical spine Abnormal lung morphology Metatarsus valgus Thrombocytopenia Immunodeficiency Ventriculomegaly Intrauterine growth retardation Growth delay Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Abnormal levels of creatine kinase in blood Postnatal growth retardation Abnormality of the cerebellar vermis Muscle flaccidity Muscle fiber necrosis Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles Obesity Sparse hair Myopathic facies Convex nasal ridge Broad-based gait Cutaneous photosensitivity Renal hypoplasia Epidermal acanthosis Hypotelorism Sloping forehead Pigmentary retinopathy Limb undergrowth Decreased testicular size Renal agenesis Retinopathy Triangular face Polyneuropathy Sensory neuropathy Falls Long face Dysmetria Hypermetropia Dilated cardiomyopathy Small for gestational age Attention deficit hyperactivity disorder External genital hypoplasia Congenital muscular dystrophy Bladder exstrophy Abnormality of the sella turcica Advanced pneumatization of the mastoid process Upper limb peromelia Lagopthalmos Abnormality of the shape of the midface Abnormality of dentin Abnormality of the vertebral spinous processes Unilateral cleft palate Rootless teeth Blepharochalasis Dentinogenesis imperfecta limited to primary teeth Muscle weakness Absent external genitalia Attached earlobe Submucous cleft soft palate Periorbital wrinkles Phthisis bulbi Multiple impacted teeth Thoracolumbar kyphoscoliosis Penoscrotal hypospadias Ureteral stenosis Amelia involving the lower limbs Spasticity Short metatarsal Progressive muscle weakness Dysphonia Abnormality of the metacarpal bones Infantile muscular hypotonia Sandal gap Type I diabetes mellitus Coxa valga Muscle stiffness Sensorimotor neuropathy Short thumb Specific learning disability Epicanthus Decreased antibody level in blood Short metacarpal Microcornea Dyskinesia Short palm Smooth philtrum Hip dislocation Kyphoscoliosis Elevated serum creatine phosphokinase Hyporeflexia Osteolytic defects of the phalanges of the toes



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