Cataract, and Umbilical hernia

Diseases related with Cataract and Umbilical hernia

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


Top matches:

Medium match ANTERIOR SEGMENT DYSGENESIS 1; ASGD1


Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis|asmd|anterior segment ocular dysgenesis|asod

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1

Medium match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Medium 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:

Medium match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Medium match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

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 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

Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Medium match SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1


SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Medium match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Top 5 symptoms//phenotypes associated to Cataract and Umbilical hernia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Malar flattening Low-set ears Hearing impairment Muscular hypotonia Proptosis Midface retrusion Scoliosis Abnormal facial shape Microcephaly Short neck Strabismus Short nose Sensorineural hearing impairment Glaucoma Cryptorchidism Flat face Flexion contracture Wide nasal bridge Delayed eruption of teeth Abnormality of the dentition Inguinal hernia Retinal detachment Oral cleft Hypertelorism Intellectual disability, moderate Telecanthus Micrognathia Keratitis Aplasia/Hypoplasia of the corpus callosum Downslanted palpebral fissures Macrocephaly Depressed nasal bridge Ptosis Hypertension

Rare Symptoms - Less than 30% cases


Telangiectasia of the skin Pectus carinatum Generalized hypotonia Visual impairment Anteverted nares Posteriorly rotated ears High myopia Broad nasal tip Broad forehead Short philtrum Coloboma Encephalitis Hypospadias Pain Growth delay Platyspondyly Coronal cleft vertebrae Pulmonary arterial hypertension Hip contracture Feeding difficulties Coxa vara Abnormality of epiphysis morphology Hyperhidrosis Long philtrum Microphthalmia Pectus excavatum Camptodactyly of finger Retinopathy Abnormality of the vertebral column Narrow mouth Skeletal dysplasia Retrognathia Severe short stature Depressivity Kyphosis Respiratory distress Abnormality of the skeletal system Gait disturbance Cerebral cortical atrophy Congestive heart failure Bifid scrotum Microcornea Hernia Blepharophimosis Intellectual disability, severe Hypoplasia of the iris Abnormality of the hair Micropenis Arrhythmia Hypothyroidism Proteinuria Wide mouth Ectopia lentis Dental malocclusion Wide intermamillary distance Corneal opacity Macular hypoplasia Epicanthus Anxiety Dry skin Hypertrophic cardiomyopathy Sleep disturbance Macroglossia Hypotension Abdominal distention Paresthesia Feeding difficulties in infancy Depressed nasal ridge Abnormality of the face Abnormality of the kidney Abnormality of the eye Large fontanelles Nephrolithiasis Hypothermia Jaundice Oligohydramnios Leukoencephalopathy Upper limb peromelia Microretrognathia Intention tremor Advanced pneumatization of the mastoid process Interphalangeal joint contracture of finger Amelia involving the lower limbs Aciduria Coarse facial features Increased serum lactate Premature birth Optic atrophy Lactic acidosis Small for gestational age Constipation Hypogonadism Sinusitis Encephalopathy Neonatal hypotonia Thyroid hypoplasia Thyroid agenesis Abnormal pericardium morphology Ectopic thyroid Hoarse cry Increased thyroid-stimulating hormone level Intestinal obstruction Tracheoesophageal fistula Abnormality of the thyroid gland Angiokeratoma corporis diffusum Prolonged neonatal jaundice Congenital hypothyroidism Palpebral edema Primary hypothyroidism Pseudohypoparathyroidism Broad nail Abnormal eyelid morphology Growth abnormality Compensated hypothyroidism Reduced tendon reflexes Respiratory insufficiency Acidosis Respiratory failure Oligodontia Anterior hypopituitarism Anosmia Cerebellar atrophy Cardiomyopathy Tremor Thyroid dysgenesis Intrauterine growth retardation Hepatomegaly Failure to thrive Goiter Ataxia Abnormality of vision Abnormality of reproductive system physiology Large posterior fontanelle Hyperammonemia Camptodactyly Flat occiput Alopecia Abnormality of skin pigmentation Absent hand Abnormal chorioretinal morphology Ridged fingernail Finger syndactyly Attention deficit hyperactivity disorder Skin rash Erythema Hyperkeratosis Cognitive impairment Abnormal blistering of the skin Spasticity Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Shoulder flexion contracture Abnormal hand morphology Pursed lips Percussion myotonia Hypodontia Blue sclerae Temperature instability Irregular hyperpigmentation Asymmetric growth Supernumerary ribs Deviation of finger Cerebral ischemia Verrucae Hypoplastic fingernail Dystrophic toenail Abnormal toenail morphology Hearing abnormality Uveitis Abnormality of immune system physiology Skin ulcer Supernumerary nipple Hemiplegia/hemiparesis Abnormality of dental morphology Eosinophilia Hypopigmented skin patches Spina bifida occulta Osteolysis Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Talipes valgus Flexion contracture of toe Abnormal aortic valve morphology Hyporeflexia Talipes Retinal hemorrhage Apnea Rigidity Pes planus Osteopenia Kyphoscoliosis Osteoporosis Delayed skeletal maturation Myopathy Recurrent fractures Talipes equinovarus Dysphagia Skeletal muscle atrophy Fever Muscle weakness Abnormal pulmonary valve morphology Gastroparesis Hyperalaninemia 3-Methylglutaconic aciduria Moderate global developmental delay Abnormality of the shape of the midface Full cheeks Spinal deformities Metaphyseal widening Weak voice Wrist flexion contracture Hypoplasia of the musculature Constrictive median neuropathy Blepharospasm Malignant hyperthermia High pitched voice Skeletal muscle hypertrophy Myotonia Overfolded helix Sleep apnea Decreased testicular size Narrow palpebral fissure Coxa valga Generalized hirsutism EMG abnormality Congenital hip dislocation Abnormal autonomic nervous system physiology Elbow flexion contracture Joint contracture of the hand Bowing of the long bones Lumbar hyperlordosis Lagopthalmos Facial asymmetry Abnormality of dentin Heterotopia Severe sensorineural hearing impairment Partial agenesis of the corpus callosum Long nose Epiphyseal dysplasia Prominent supraorbital ridges Aminoaciduria Abnormal vertebral morphology Wide anterior fontanel Omphalocele Abnormality of the uterus Congenital diaphragmatic hernia Progressive visual loss Intestinal malrotation Retinal dystrophy Iris coloboma Pulmonary hypoplasia Prominent forehead Agenesis of corpus callosum Ventricular septal defect Widow's peak Bicornuate uterus Chordee Hip dislocation Spondyloepiphyseal dysplasia Neonatal respiratory distress Joint dislocation Rhizomelia Abnormality of the metaphysis Recurrent otitis media Osteoarthritis Round face Micromelia Joint stiffness Short sternum Hyperlordosis Conductive hearing impairment Motor delay Cleft palate Non-acidotic proximal tubulopathy Low-molecular-weight proteinuria Infra-orbital crease Diaphragmatic eventration Proximal tubulopathy Frontal bossing Aplasia/Hypoplasia of the nipples Short thorax Keratoconjunctivitis sicca Abnormality of the optic nerve Optic nerve coloboma Ectopia pupillae Corneal erosion Sclerocornea Increased intraocular pressure Iris hypopigmentation Posterior embryotoxon Aniridia Keratoconus Anterior segment developmental abnormality Optic nerve hypoplasia Opacification of the corneal stroma Abnormality of the genital system Short palpebral fissure Congenital cataract Photophobia Behavioral abnormality Atrial septal defect Nystagmus Corneal neovascularization Peters anomaly Hypoplastic nipples Stage 5 chronic kidney disease Congenital sensorineural hearing impairment Abnormal dermatoglyphics Telangiectasia Renal dysplasia Thick lower lip vermilion Renal hypoplasia Pancytopenia Hypoplasia of penis Everted lower lip vermilion Renal insufficiency Abnormality of the hypothalamus-pituitary axis Macular hypopigmentation Aphakia Axenfeld anomaly Abnormality of the sense of smell Polycoria Rieger anomaly Aplasia/Hypoplasia of the iris Posterior polar cataract Anterior synechiae of the anterior chamber Flared metaphysis Chorioretinal atrophy Abnormality of the vertebral spinous processes Hypoplasia of the maxilla Premature loss of teeth Submucous cleft hard palate Anteriorly placed anus Thickened calvaria Mixed hearing impairment Cutaneous syndactyly Pointed chin Narrow forehead Bifid uvula Highly arched eyebrow Thoracolumbar scoliosis Thick vermilion border Downturned corners of mouth Wide nose Thick eyebrow Thin vermilion border Synophrys Carious teeth Craniosynostosis Low-set, posteriorly rotated ears Megalocornea Eyelid coloboma High forehead Phthisis bulbi Unilateral cleft palate Rootless teeth Blepharochalasis Abnormality of the sella turcica Dentinogenesis imperfecta limited to primary teeth Absent external genitalia Attached earlobe Submucous cleft soft palate Periorbital wrinkles Multiple impacted teeth Large earlobe Thoracolumbar kyphoscoliosis Penoscrotal hypospadias Ureteral stenosis Bladder exstrophy Abnormality of the cervical spine Prominent nasal tip Absent nipple Cleft soft palate Concave nasal ridge Thin upper lip vermilion Mandibular prognathia Arthropathy Enlarged thorax Hydrocephalus Ventriculomegaly Abnormal cartilage collagen Flattened, squared-off epiphyses of tubular bones Splayed epiphyses Lumbar kyphoscoliosis Dumbbell-shaped long bone Rhegmatogenous retinal detachment Lens luxation Enlarged joints Polydactyly Hypoplastic ilia Disproportionate short-trunk short stature Hypoplastic pelvis Tracheal stenosis Delayed epiphyseal ossification Vitreoretinopathy Bell-shaped thorax Glossoptosis Tracheomalacia Hyperactivity Joint hyperflexibility Brachycephaly Palmar pits Recurrent infections Syndactyly High palate Cardiac fibroma Odontogenic keratocysts of the jaw Plantar pits Thickened ears Ovarian fibroma Calcification of falx cerebri Metopic synostosis Abnormality of the ribs Rhabdomyosarcoma Medulloblastoma Basal cell carcinoma Large for gestational age Nephroblastoma Trigonocephaly Arnold-Chiari malformation Accelerated skeletal maturation Tall stature Retinal vascular proliferation



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