Cataract, and Intestinal malrotation

Diseases related with Cataract and Intestinal malrotation

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


Top matches:

Low match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Low match DONNAI-BARROW SYNDROME


Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

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Other less relevant matches:

Low match DUANE-RADIAL RAY SYNDROME; DRRS


Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

DUANE-RADIAL RAY SYNDROME; DRRS Is also known as dr syndrome|acrorenoocular syndrome|duane anomaly with radial ray abnormalities and deafness|okihiro syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE-RADIAL RAY SYNDROME; DRRS

Low 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 BRANCHIO-OCULO-FACIAL SYNDROME


Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

BRANCHIO-OCULO-FACIAL SYNDROME Is also known as bofs|hemangiomatous branchial clefts-lip pseudocleft syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging|bof syndrome|lip pseudocleft-hemangiomatous branchial cyst syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIO-OCULO-FACIAL SYNDROME

Low match OCULOFACIOCARDIODENTAL SYNDROME


Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

OCULOFACIOCARDIODENTAL SYNDROME Is also known as oculofaciocardiodental syndrome|anop2, formerly|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia, cataracts, radiculomegaly, and septal heart defects|maa2, formerly|ofcd syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOFACIOCARDIODENTAL SYNDROME

Low match CONGENITAL CONTRACTURAL ARACHNODACTYLY


Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9|cca syndrome|contractural arachnodactyly, congenital|beals syndrome|beals-hecht syndrome|cca

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Micrognathia
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY

Low match ACROOSTEOLYSIS


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Low match X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE


Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Top 5 symptoms//phenotypes associated to Cataract and Intestinal malrotation

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Iris coloboma Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Coloboma

Uncommon Symptoms - Between 30% and 50% cases


Myopia

Common Symptoms - More than 50% cases


Cleft palate

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Dolichocephaly Patent ductus arteriosus Hypospadias Low-set ears Short neck Short stature Telecanthus Wide nasal bridge Umbilical hernia Sensorineural hearing impairment Microcornea Intellectual disability Microcephaly Global developmental delay Ptosis Microphthalmia Syndactyly Long philtrum Flexion contracture Agenesis of corpus callosum Hydrocephalus Abnormal heart morphology Posteriorly rotated ears Abnormality of the dentition Kyphosis Seizures Preaxial polydactyly Abnormality of cardiovascular system morphology Downslanted palpebral fissures Macrocephaly Polydactyly Motor delay Malar flattening Hernia Prominent forehead Frontal bossing Joint laxity Thin vermilion border Broad nasal tip Patellar dislocation Downturned corners of mouth Pectus carinatum Osteopenia Inguinal hernia Bowing of the long bones Aortic valve stenosis Failure to thrive Strabismus Cryptorchidism Short thumb Renal agenesis Abnormality of the kidney Dilatation Atrial septal defect Thick eyebrow Talipes equinovarus High palate Preaxial hand polydactyly Generalized hirsutism Anal stenosis Abnormality of the pinna Nystagmus Hydronephrosis

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Rough bone trabeculation Abnormal facial shape Brachydactyly Hepatomegaly Hypoplastic 5th lumbar vertebrae Anteverted nares Congenital contracture Platybasia Splenomegaly Biconcave vertebral bodies Absent frontal sinuses Osteoporosis Partial absence of toe Single transverse palmar crease Aganglionic megacolon Elbow flexion contracture Joint contracture of the hand Open bite Clinodactyly Camptodactyly Cleft upper lip Headache Retinal coloboma Abnormality of the nasopharynx Cleft lip Gastroesophageal reflux Clinodactyly of the 5th finger Intellectual disability, mild Brachycephaly Craniosynostosis Decreased skull ossification Mitral stenosis Facial asymmetry Coarse hair Arnold-Chiari malformation Osteolysis Abnormality of the fingernails Wormian bones Low anterior hairline Skin ulcer Prominent occiput Short toe Bone pain Thickened skin Toe syndactyly Full cheeks Recurrent fractures Wide nose Pain Broad thumb Periodontitis Recurrent respiratory infections Narrow mouth Skeletal dysplasia Arthralgia Coarse facial features Blepharophimosis Short distal phalanx of finger Synophrys Delayed puberty Joint hyperflexibility Dry skin Multiple renal cysts Syringomyelia Choanal atresia Abnormality of the voice Anal atresia Cerebellar hypoplasia Mitral valve prolapse Auricular pit Heterotopia Wide mouth Short nose Deeply set eye Cognitive impairment Depressed nasal bridge Broad forehead Pulmonary hypoplasia Retinal detachment Partial agenesis of the corpus callosum Bifid nasal tip Ectopia lentis Abnormal vertebral morphology Prominent nose Prominent nasal bridge Dental malocclusion Renal hypoplasia Duodenal atresia Abnormal cardiac septum morphology Abnormality of the skeletal system Feeding difficulties Pyloric stenosis Wide anterior fontanel Epicanthus Optic nerve hypoplasia Anophthalmia Highly arched eyebrow Bifid uvula Cubitus valgus Radioulnar synostosis Oligodontia Delayed eruption of teeth Congenital cataract Decreased body weight Abnormal palate morphology High, narrow palate Pulmonic stenosis Clubbing Genu valgum Spastic paraparesis Narrow face Exotropia Long face Tracheoesophageal fistula Hammertoe Heart murmur Phthisis bulbi Arachnodactyly Single median maxillary incisor Talipes Arthrogryposis multiplex congenita Remnants of the hyaloid vascular system Camptodactyly of finger Joint stiffness Kyphoscoliosis Anteverted ears Arrhythmia Septate vagina Asymmetry of the ears Transverse vaginal septum Fused teeth Multiple unerupted teeth Flexion contracture of the 4th toe Laterally curved eyebrow Vertigo Chest pain Flexion contracture of the 2nd toe Double outlet right ventricle 2-3 toe syndactyly Adrenal insufficiency Dextrocardia Broad palm Increased number of teeth Submucous cleft hard palate Aortic aneurysm Adducted thumb Interphalangeal joint contracture of finger Misalignment of teeth Bicuspid aortic valve Asplenia Peripheral pulmonary artery stenosis Knee flexion contracture Hand clenching Mitral regurgitation Persistence of primary teeth Fatigue Short columella Metatarsus adductus Unsteady gait Dental crowding Pachygyria Open mouth Split hand Thick lower lip vermilion Fine hair Lumbar hyperlordosis Webbed neck Triangular face Severe global developmental delay Narrow palate Attention deficit hyperactivity disorder Sparse hair Intellectual disability, moderate Aggressive behavior Anxiety Neonatal hypotonia Rigidity Macrotia Respiratory failure Cerebral cortical atrophy Gynecomastia Plagiocephaly Constipation Skin tags Postnatal macrocephaly Microtia, first degree Prominent fingertip pads Frontal upsweep of hair Sagittal craniosynostosis Gastrointestinal dysmotility Delayed closure of the anterior fontanelle Facial hypotonia Megalencephaly Thoracic scoliosis Sacral dimple Anteriorly placed anus Abnormality of the sternum Broad hallux High pitched voice Multiple joint contractures Bowing of the legs Radial deviation of finger Impulsivity Chorioretinal coloboma Relative macrocephaly Hyperactivity Absent speech Decreased muscle mass Megalocornea Patellar subluxation Iridodonesis Lens subluxation Spinal deformities Hypoplasia of the musculature Interrupted aortic arch Slender build Abnormally large globe Single umbilical artery Scaphocephaly Abnormally folded helix Esophageal atresia Distal arthrogryposis Aortic root aneurysm Hip contracture Ulnar deviation of finger Keratoconus Hypothyroidism Abnormality of the musculature Slender finger Disproportionate tall stature Crumpled ear Congenital kyphoscoliosis Behavioral abnormality Flank pain Gait disturbance Optic atrophy Visual impairment Spasticity Generalized hypotonia Osteolytic defects of the phalanges of the toes Basilar invagination Premature loss of permanent teeth Basilar impression Respiratory arrest Calf muscle hypoplasia Osteolytic defects of the phalanges of the hand Delayed cranial suture closure Glomerulonephritis Polycystic kidney dysplasia Hematuria Joint hypermobility Paresthesia Respiratory tract infection Recurrent infections Hypertension Feeding difficulties in infancy Overfolded helix Glaucoma Bilateral sensorineural hearing impairment Abnormality of the urinary system Hypoplasia of the radius Abnormal dermatoglyphics Sandal gap Spina bifida occulta Horseshoe kidney Arnold-Chiari type I malformation Chronic constipation Hypoplasia of the ulna Vesicoureteral reflux Optic nerve coloboma Facial palsy Pes planus Diabetes mellitus Medulloblastoma Anterior plagiocephaly Cutaneous syndactyly of toes Triphalangeal thumb Ectopic kidney Duplication of thumb phalanx Hemifacial hypoplasia Impaired convergence Impaired ocular abduction Impaired ocular adduction Unilateral deafness Radial deviation of the hand Aplasia of metacarpal bones Renal malrotation Crossed fused renal ectopia Absent thumb Optic disc hypoplasia Duane anomaly Small thenar eminence Bladder diverticulum Fused cervical vertebrae Choanal stenosis Absent radius Short humerus Hemimegalencephaly Non-acidotic proximal tubulopathy Pectoralis hypoplasia Corneal astigmatism Myopathy Proptosis Midface retrusion Malabsorption Astigmatism Cerebellar vermis hypoplasia Short palpebral fissure Jejunal atresia Retinal dystrophy Hypoplastic iris stroma Bilateral renal hypoplasia Retinal vascular tortuosity Accessory spleen Intestinal atresia Peters anomaly Sex reversal Ectopia pupillae Proteinuria Abnormality of thumb phalanx Low-molecular-weight proteinuria Hypoplasia of the iris Infra-orbital crease Macular hypoplasia Diaphragmatic eventration Proximal tubulopathy Short sternum Bicornuate uterus Abnormality of the uterus Widow's peak Severe sensorineural hearing impairment Progressive visual loss Long nose Epiphyseal dysplasia Prominent supraorbital ridges Aplasia/Hypoplasia of the corpus callosum Aminoaciduria Omphalocele High myopia Congenital diaphragmatic hernia Palpebral fissure narrowing on adduction Slit-like opening of the exterior auditory meatus Visual loss Atypical scarring of skin Lacrimal duct stenosis Fingernail dysplasia Nasolacrimal duct obstruction Agenesis of cerebellar vermis White forelock Hypoplastic fingernail Premature skin wrinkling Bilateral cleft lip Everted upper lip vermilion Median cleft lip Aplasia cutis congenita Hamartoma Non-midline cleft lip Premature graying of hair Supernumerary nipple Preauricular pit Unilateral renal agenesis Abnormality of the philtrum Polycoria Sclerocornea Malrotation of colon Vomiting Hypoplasia of the corpus callosum Ventriculomegaly Fusion of middle ear ossicles Ectopic thymus tissue Supraauricular pit Upper lip pit Duplication of internal organs Postauricular pit Lacrimal duct atresia Enlarged vestibular aqueduct Short nasal septum Lower lip pit Branchial anomaly Hypoplastic superior helix Small forehead Dermoid cyst Branchial fistula Proximal placement of thumb Nasal speech Upper limb muscle hypoplasia Hirsutism Carcinoma Growth delay Abnormality of the mandible Hypoplasia of the zygomatic bone Abnormality of the skull Finger syndactyly Polymicrogyria Abnormality of the skin Upslanted palpebral fissure Horizontal nystagmus Narrow palpebral fissure Hypopigmented skin patches Bilateral ptosis Basal cell carcinoma Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Foot polydactyly Intrauterine growth retardation Conductive hearing impairment Dermal atrophy Wide intermamillary distance Deep philtrum Reduced number of teeth Hemangioma Abnormality of the outer ear Multicystic kidney dysplasia Low posterior hairline Tetralogy of Fallot Microdontia Hypodontia Low-set, posteriorly rotated ears Renal cyst Everted lower lip vermilion Oral cleft Small for gestational age Neurological speech impairment Microtia Postnatal growth retardation Hyperlordosis Facial wrinkling



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