Cataract, and Pectus carinatum

Diseases related with Cataract and Pectus carinatum

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


Top matches:

Low match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Low match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

Low match CLASSIC HOMOCYSTINURIA


Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

Low match SPONDYLO-OCULAR SYNDROME


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.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Low match SIALIDOSIS TYPE 1


Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

Low match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Low 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

Top 5 symptoms//phenotypes associated to Cataract and Pectus carinatum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Short stature Nystagmus Sensorineural hearing impairment Generalized hypotonia Hypertelorism Muscle weakness Skeletal dysplasia Abnormal facial shape Ataxia Hernia Global developmental delay Short neck Visual impairment Malar flattening Glaucoma Depressed nasal bridge Retinal detachment Midface retrusion Short nose Muscular hypotonia Abnormal form of the vertebral bodies Micrognathia Tremor Optic atrophy Platyspondyly Low-set ears Spasticity Long philtrum Frontal bossing Flat face Anteverted nares Cleft palate Pectus excavatum

Rare Symptoms - Less than 30% cases


Hepatomegaly Gait disturbance Skeletal muscle atrophy Wide nasal bridge Hypertension Visual loss Thoracic kyphosis Amblyopia Osteopenia Thin vermilion border Posteriorly rotated ears Splenomegaly Osteoporosis Genu valgum Hyperlordosis Lumbar hyperlordosis Abnormality of the metaphysis Myoclonus Broad forehead Limb undergrowth Micromelia Narrow chest Proptosis Severe short stature Syndactyly Rhizomelia Hydrops fetalis Megalocornea Downslanted palpebral fissures Waddling gait Coarse facial features Urinary excretion of sialylated oligosaccharides Barrel-shaped chest Increased urinary O-linked sialopeptides Congenital cataract Cherry red spot of the macula Short thorax Slurred speech Progressive visual loss High myopia Abnormality of movement Corneal opacity High palate Dysostosis multiplex High forehead Osteoarthritis Mitral valve prolapse Bifid uvula Retinopathy Inability to walk Abnormality of the dentition Spondyloepiphyseal dysplasia Long fingers Peripheral neuropathy Absent speech Arachnodactyly Cardiomyopathy Delayed skeletal maturation Talipes equinovarus Cerebellar atrophy Joint hypermobility Microcephaly Mandibular prognathia Joint stiffness Failure to thrive Choreoathetosis Gait ataxia Delayed speech and language development Dysmetria Hyperreflexia Narrow forehead Cervical myelopathy Retinoschisis Delayed pubic bone ossification Flattened epiphysis Limited hip movement Neonatal short-trunk short stature Sciatica Myelopathy Limitation of knee mobility Delayed calcaneal ossification Flexion contracture Blindness Inguinal hernia Dementia Dyspnea Hepatosplenomegaly Proteinuria Abnormality of the nervous system Mental deterioration Falls Limited elbow movement Restrictive ventilatory defect Ovoid vertebral bodies Respiratory distress Autoimmunity Respiratory tract infection Apnea Arthritis Polydactyly Congestive heart failure Pain Paresthesia Growth delay Widely patent sagittal suture Posterior vertebral hypoplasia Widely patent coronal suture Pear-shaped vertebrae Broad ischia Hip dislocation Retinal degeneration Arthralgia Bowing of the legs Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Ascites Vestibular dysfunction Back pain Pulmonary hypoplasia Genu varum Growth abnormality Sleep apnea Coxa vara Abnormality of epiphysis morphology Abnormal lung morphology Limitation of joint mobility Neurodegeneration Epiphyseal stippling Progressive cerebellar ataxia Large earlobe Bladder exstrophy Abnormality of the cervical spine Prominent nasal tip Absent nipple Cleft soft palate Concave nasal ridge Eyelid coloboma Penoscrotal hypospadias Thoracolumbar scoliosis Premature loss of teeth Submucous cleft hard palate Anteriorly placed anus Thickened calvaria Abnormality of the vertebral column Mixed hearing impairment Ureteral stenosis Thoracolumbar kyphoscoliosis Bifid scrotum Rootless teeth 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 Blepharochalasis Multiple impacted teeth Abnormality of the sella turcica Dentinogenesis imperfecta limited to primary teeth Absent external genitalia Attached earlobe Submucous cleft soft palate Periorbital wrinkles Phthisis bulbi Keratitis Cutaneous syndactyly Cardiomegaly Bone-marrow foam cells Umbilical hernia Micropenis Brachycephaly Hypospadias Recurrent infections Cryptorchidism Strabismus Facial edema Telecanthus Vacuolated lymphocytes Foam cells Hand tremor Syringomyelia Posterior rib cupping Hyperactive deep tendon reflexes Laryngomalacia Thin upper lip vermilion Intellectual disability, moderate Pointed chin Downturned corners of mouth Wide intermamillary distance Dental malocclusion Broad nasal tip Hypoplasia of the maxilla Delayed eruption of teeth Highly arched eyebrow Thick vermilion border Wide nose Low-set, posteriorly rotated ears Thick eyebrow Facial asymmetry Synophrys Carious teeth Short philtrum Coloboma Craniosynostosis Dumbbell-shaped long bone Hearing abnormality Thin clavicles Pes planus Cerebral ischemia Arterial thrombosis Subcutaneous hemorrhage Abnormality of amino acid metabolism Sparse eyebrow Brittle hair Sparse eyelashes Ventricular septal defect Abnormal autonomic nervous system physiology Atrial septal defect Microphthalmia Depressivity Broad-based gait Fine hair Abnormal cardiac septum morphology Arteriovenous malformation Hyperextensible skin Posterior subcapsular cataract Iris hypopigmentation Subcapsular cataract Preauricular pit Hemiplegia Increased susceptibility to fractures Accelerated skeletal maturation Generalized-onset seizure Decreased body weight Low posterior hairline Webbed neck Dandy-Walker malformation Unsteady gait Joint hyperflexibility Esophageal varix Pulmonary embolism Abnormality of the antihelix Increased serum lactate Abnormality of mitochondrial metabolism Optic nerve hypoplasia Absence seizures Hip dysplasia Aciduria Esotropia Distal amyotrophy Behavioral abnormality Long face Peripheral axonal neuropathy Abnormality of the foot Delayed puberty Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Upslanted palpebral fissure Abnormality of the skeletal system Disproportionate tall stature Anorexia Hemiplegia/hemiparesis Ectopia lentis Intracranial hemorrhage Urticaria Venous thrombosis Abnormality of retinal pigmentation Hand clenching Elevated hepatic transaminase Dental crowding Sparse scalp hair Psychosis Gastrointestinal hemorrhage Recurrent fractures Feeding difficulties Abnormal eyebrow morphology Facial hypotonia Narrow greater sacrosciatic notches Hypoplastic toenails Glossoptosis Arthropathy Short palm Small hand Short foot Round face Abnormality of the ribs Omphalocele Wide anterior fontanel Joint contracture of the hand Short ribs Plagiocephaly Short long bone Patent foramen ovale Thoracic hypoplasia Camptodactyly of finger Broad ribs Broad long bones Anterior rib cupping Long clavicles Hypoplastic ischia Abnormal diaphysis morphology Metaphyseal cupping Bifid tongue Thin ribs Hypoplastic fingernail Hypoplastic scapulae Deeply set eye Bell-shaped thorax Protuberant abdomen Fibular hypoplasia Exostoses Abnormality of the pinna Vertebral compression fractures Dysplastic aortic valve Hyperkeratosis Kyphoscoliosis Protruding ear Distal muscle weakness Talipes Left hemiplegia Aplasia/Hypoplasia of the lens Cerebellar hypoplasia Abnormality of the intervertebral disk Long toe Unilateral cryptorchidism Shield chest Thickened helices Disproportionate short-trunk short stature Agenesis of corpus callosum EEG abnormality Camptodactyly Brachydactyly Pierre-Robin sequence Narrow mouth Abnormal vitreous humor morphology Clinodactyly of the 5th finger Abnormal metacarpal morphology Respiratory insufficiency Vascular skin abnormality Hyporeflexia Hypoplasia of the corpus callosum Decreased nerve conduction velocity Aminoaciduria Thick lower lip vermilion Dystonia Neurological speech impairment Amelia involving the lower limbs



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