Cataract, and Full cheeks

Diseases related with Cataract and Full cheeks

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


Top matches:

Medium match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Medium match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Medium match PSEUDOPSEUDOHYPOPARATHYROIDISM


Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

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Other less relevant matches:

Medium match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Medium match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME


Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Medium match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Medium match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Medium match LATHOSTEROLOSIS


Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Medium match BORJESON-FORSSMAN-LEHMANN SYNDROME


Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

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

Top 5 symptoms//phenotypes associated to Cataract and Full cheeks

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Short stature Microcornea Global developmental delay Muscular hypotonia Hearing impairment Myopia Sloping forehead Microphthalmia Long philtrum Anteverted nares Nystagmus Severe short stature Depressed nasal bridge Growth delay Short neck Hypertension Brachydactyly Rigidity Talipes Abnormality of the skeletal system Osteoporosis Obesity Epicanthus Optic atrophy Abnormality of the dentition Delayed eruption of teeth Hypoplasia of dental enamel Anophthalmia Wide nasal bridge Specific learning disability

Rare Symptoms - Less than 30% cases


Edema Hypertonia Thick vermilion border Retinal dystrophy Wide nose Dry skin Leukemia Retinopathy Protruding ear Upslanted palpebral fissure Atrial septal defect Glaucoma Bowing of the long bones Retinal detachment Blindness Postaxial foot polydactyly Visual loss Skin ulcer Lymphoma Abnormal facial shape Panniculitis Chorioretinal dysplasia Melanonychia Hyporeflexia Decreased testicular size Blepharophimosis Skeletal muscle atrophy Downslanted palpebral fissures Abnormal nasolacrimal system morphology Intellectual disability, severe Macrotia Hypermetropia Hypoplasia of penis Failure to thrive Narrow forehead Talipes equinovarus Erysipelas Chylothorax Status epilepticus Venous thrombosis Subcutaneous nodule Thickened skin Amblyopia Abnormality of retinal pigmentation Lymphedema Muscle stiffness Pointed chin Scaling skin Leukonychia Narrow palpebral fissure Cellulitis Underdeveloped supraorbital ridges Abnormal eyelash morphology Gangrene Abnormal toenail morphology Retinal dysplasia Postaxial hand polydactyly Spasticity Metaphyseal widening Round face Polydactyly Thin upper lip vermilion Pseudohypoparathyroidism Ectopic calcification Oral cleft Short foot Inguinal hernia Short metacarpal Cerebral calcification Aggressive behavior Gingival overgrowth Cognitive impairment Sensorineural hearing impairment Pain Bilateral sensorineural hearing impairment Cryptorchidism Respiratory distress Abnormality of the thoracic spine Scoliosis Strabismus Feeding difficulties Visual impairment Lumbosacral meningocele Pursed lips Myopathy Peripheral neuropathy Feeding difficulties in infancy Flexion contracture of toe Tapered finger Thick eyebrow Joint hyperflexibility Delayed puberty Temperature instability Sparse hair Abnormality of the pinna Intellectual disability, moderate Bilobate gallbladder Deeply set eye EEG abnormality Coarse facial features Hypothyroidism Micropenis Hypogonadism Kyphosis Macrocephaly Talipes valgus Percussion myotonia Abnormal platelet morphology Foam cells with lamellar inclusion bodies Smooth tongue Portal hypertension Elevated alkaline phosphatase Arnold-Chiari malformation Opacification of the corneal stroma Hyperbilirubinemia Horseshoe kidney Cholestasis Abnormality of femoral epiphysis Pathologic fracture Long eyelashes in irregular rows Downturned corners of mouth Postaxial polydactyly Bulbous nose Hepatic failure Thin vermilion border Toe syndactyly Bilateral talipes equinovarus Biparietal narrowing Severe generalized osteoporosis Neural tube defect Schistocytosis Abnormality of cholesterol metabolism Shoulder flexion contracture Hypertrichosis Cerebellar cortical atrophy Anisopoikilocytosis Generalized muscle hypertrophy Increased mean platelet volume Prominent metopic ridge Butterfly vertebrae Ambiguous genitalia, male Generalized osteoporosis Acanthocytosis Thick upper lip vermilion Intrahepatic cholestasis Myelomeningocele Meningocele Amenorrhea Constrictive median neuropathy Heterotopia Abnormality of the hip bone Short 5th finger Ketoacidosis Broad neck Broad foot Hypopituitarism Thickened calvaria External genital hypoplasia Shortening of all distal phalanges of the fingers Truncal obesity Abnormality of neuronal migration Narrow mouth Conductive hearing impairment Proptosis Kyphoscoliosis Osteopenia Large earlobe Camptodactyly of toe Umbilical hernia Delayed skeletal maturation Dysphagia Midface retrusion Fever Flexion contracture Low-set ears Muscle weakness Scheuermann-like vertebral changes Long ear Hypoplasia of the prostate Widely spaced toes Hyperhidrosis Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Moderately short stature Diabetic ketoacidosis Skeletal dysplasia Pes planus Spinal deformities Malignant hyperthermia Myotonia Skeletal muscle hypertrophy Hypergonadotropic hypogonadism High pitched voice Hip contracture Short toe Blepharospasm Sleep apnea Malar flattening Coronal cleft vertebrae Hypoplasia of the musculature Wrist flexion contracture Weak voice Gynecomastia Hyperpigmentation of the skin Overfolded helix Coxa vara Hammertoe Lumbar hyperlordosis Apnea Camptodactyly Pectus carinatum Platyspondyly Flat face Recurrent fractures Joint contracture of the hand Coxa valga Elbow flexion contracture Abnormal autonomic nervous system physiology Congenital hip dislocation EMG abnormality Prominent supraorbital ridges Generalized hirsutism Scrotal hypoplasia Abnormality of the liver Hypocalcemic tetany Elevated hepatic transaminase Cleft palate Ambiguous genitalia Oligohydramnios Dandy-Walker malformation Low-set, posteriorly rotated ears Abnormality of cardiovascular system morphology Hydrocephalus Hypertelorism Encephalocele Short 4th metacarpal Impulsivity Short metatarsal Brachycephaly Chronic tubulointerstitial nephritis Short iliac bones Pes valgus Depressed nasal ridge Situs inversus totalis Elevated serum creatinine Ureteral duplication Pancreatic fibrosis Aplasia/Hypoplasia of the tongue Urethral atresia Abnormal chorioretinal morphology Aplasia/Hypoplasia of the iris Accessory spleen Pancreatic cysts Congenital hepatic fibrosis Multicystic kidney dysplasia Furrowed tongue Asplenia Sclerocornea Male pseudohermaphroditism Anencephaly Preaxial hand polydactyly Aplasia/Hypoplasia of the corpus callosum Thoracic dysplasia Glomerulonephritis Lobar holoprosencephaly Progressive sensorineural hearing impairment High-frequency hearing impairment Retinal coloboma Periodontitis Taurodontia Ankylosis Increased number of teeth Progressive hearing impairment Pulp stones Abnormality of dental enamel Ectodermal dysplasia Hypodontia Iris coloboma Long face Carious teeth Coloboma Macrodontia High-frequency sensorineural hearing impairment Short ribs Proteinuria Rhizomelia Renal hypoplasia Limb undergrowth Stage 5 chronic kidney disease Narrow chest Respiratory tract infection Cleft lip Respiratory insufficiency Odontoma Abnormality of the dental pulp Abnormality of molar morphology Abnormality of canine Abnormality of the maxilla Otitis media with effusion Agenesis of premolar Lens coloboma True hermaphroditism Cystic liver disease Hepatosplenomegaly Overgrowth Patent foramen ovale Bilateral ptosis Deep philtrum Optic nerve hypoplasia Thick lower lip vermilion Pigmentary retinopathy Broad nasal tip Agitation Sleep disturbance Astigmatism Corneal opacity Attention deficit hyperactivity disorder Neonatal hypotonia Mandibular prognathia Reduced visual acuity Flat occiput Cortical gyral simplification Prominent forehead High palate Myoclonus Thrombocytopenia Cerebral atrophy Syndactyly Short nose Intrauterine growth retardation Hepatomegaly Chorioretinal lacunae Chorioretinal atrophy Myopic astigmatism Exudative vitreoretinopathy Retinal thinning Prominent nasal tip Congenital microcephaly Retinal fold Vitreoretinopathy Hyperactivity Intellectual disability, mild Abnormality of the eye Anxiety Growth hormone deficiency Chest pain Muscle cramps Dyskinesia Paresthesia Irritability Dyspnea Hypocalcemia Depressivity Renal insufficiency Abnormality of the optic nerve Abnormal eyelid morphology Pleural effusion Abnormality of vision Abnormality of the hair Increased bone mineral density Conjunctivitis Hypoplasia of the corpus callosum Hypocalcemic seizures Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Pituitary resistance to thyroid hormone Low urinary cyclic AMP response to PTH administration Abdominal symptom Diaphyseal sclerosis Myoclonic spasms Laryngeal dystonia Reduced bone mineral density Tetany Autoimmune antibody positivity Elevated circulating parathyroid hormone level Calcinosis Hyperphosphatemia Hyperparathyroidism Prolonged QT interval Anterior bowing of long bones



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