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.
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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
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
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:
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
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
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
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
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
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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Downslanted palpebral fissures and Choanal atresia, related diseases and genetic alterations
Abnormality of the skeletal system and Type I diabetes mellitus, related diseases and genetic alterations
Ventricular septal defect and Cyanosis, related diseases and genetic alterations
Hydrocephalus and Neutropenia, related diseases and genetic alterations
Cleft palate and Hypoglycemia, related diseases and genetic alterations
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