Cataract, and Hip dysplasia

Diseases related with Cataract and Hip dysplasia

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


Top matches:

Medium match CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME


CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

Medium match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Medium 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:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6


Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Medium match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY


Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

Medium match X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA


X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-hÜnermann-happle syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Medium match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Medium match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match CODAS SYNDROME


Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Hip dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Congenital cataract Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Hip dysplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Nystagmus Microcephaly Delayed speech and language development Hip dislocation Abnormality of the skeletal system Feeding difficulties Abnormal facial shape Failure to thrive Depressed nasal bridge Intellectual disability, moderate Flexion contracture Spasticity Muscular hypotonia Frontal bossing Ptosis Hypoplasia of the corpus callosum Hyperkeratosis Atrial septal defect Elevated serum creatine phosphokinase Epicanthus Deeply set eye Ataxia Myopia Optic atrophy Sensorineural hearing impairment Peripheral neuropathy Cerebellar atrophy Hyporeflexia Polyhydramnios

Rare Symptoms - Less than 30% cases


Pectus carinatum Growth delay Downslanted palpebral fissures Low-set ears Abnormal levels of creatine kinase in blood Kyphosis Esotropia Inability to walk Delayed puberty High palate Muscular hypotonia of the trunk Dysarthria Kyphoscoliosis Anteverted nares Gait ataxia Short neck Bulbous nose Limb undergrowth Delayed skeletal maturation Muscle weakness Postaxial polydactyly Poor speech Dandy-Walker malformation Hepatic steatosis Anal atresia Smooth philtrum Absent speech Hemiatrophy Muscular dystrophy Hypermetropia Hydronephrosis Infantile muscular hypotonia CNS hypomyelination Cerebral atrophy Hypertrichosis Polydactyly Hypertension Cerebellar hypoplasia Narrow forehead Abnormality of the dentition Cerebral cortical atrophy Brachycephaly Ventriculomegaly Myopathy Alopecia Short nose Macrocephaly Glaucoma Genu valgum Skeletal muscle atrophy Hyperactivity Pes planus Hypertonia Hypogonadism Talipes equinovarus Cryptorchidism Osteopenia Abnormality of pelvic girdle bone morphology Abnormality of the pinna Sensorimotor neuropathy Abnormality of the thorax Congenital hip dislocation Spondyloepiphyseal dysplasia Brachydactyly Aplasia/Hypoplasia of the skin Skeletal dysplasia Achalasia Short palm Motor delay Specific learning disability Short metacarpal Prominent forehead Flat face Long philtrum Microcornea Attention deficit hyperactivity disorder Micrognathia Abnormality of epiphysis morphology Abnormal aldolase level Abnormality of the hair Congestive heart failure Narrow face Osteoporosis Stippled calcification in carpal bones Aortic valve stenosis Diabetes mellitus Tarsal stippling Skin ulcer Hypotrichosis Elevated 8(9)-cholestenol Mitral valve prolapse Abnormality of retinal pigmentation Hyperkeratosis with erythema Decreased body weight Elevated 8-dehydrocholesterol Retinal degeneration Punctate vertebral calcifications Thin vermilion border Thin skin Tracheal calcification Convex nasal ridge Hypertriglyceridemia Type II diabetes mellitus Limitation of joint mobility Severe short stature Aplasia/Hypoplasia involving the skeletal musculature Coxa valga Short metatarsal Dysphonia Synophrys Dyskinesia Abnormality of the metacarpal bones Sandal gap Type I diabetes mellitus Muscle stiffness Congenital muscular dystrophy Hypergonadotropic hypogonadism Progressive cerebellar ataxia Finger clinodactyly Decreased antibody level in blood Progressive muscle weakness Short thumb Limb ataxia Cubitus valgus Myopathic facies Abnormal lactate dehydrogenase activity Muscle fiber necrosis Cerebellar cortical atrophy Intellectual disability, severe Recurrent infections Metatarsus valgus Areflexia Abnormality of the cerebellar vermis Muscle flaccidity Autophagic vacuoles External genital hypoplasia Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rigidity Neurological speech impairment Rimmed vacuoles Increased bone mineral density Lack of skin elasticity Neoplasm of the skin Omphalocele Overfolded helix Epiphyseal dysplasia Bilateral ptosis Short long bone Drooling Short chin Abnormality of dental enamel Short phalanx of finger Hypoplasia of dental enamel Abnormal form of the vertebral bodies Abnormality of dental morphology Microdontia Generalized muscle weakness Delayed eruption of teeth Joint hyperflexibility Broad forehead Short philtrum Conductive hearing impairment Pneumonia Ventricular septal defect Abnormality of circulating leptin level Proximal placement of thumb Hydroureter Patchy hypo- and hyperpigmentation Pes valgus Laryngeal obstruction Extrahepatic biliary duct atresia Crumpled ear Broad skull Hypoplastic helices Squared iliac bones Lumbar scoliosis Midline defect of the nose Vocal cord paresis Delayed ossification of carpal bones Atrioventricular canal defect Thin eyebrow Coronal cleft vertebrae Complete atrioventricular canal defect Abnormality of the larynx Rectovaginal fistula Delayed epiphyseal ossification Hypoplasia of the odontoid process Prominent metopic ridge Short humerus Metaphyseal dysplasia Sclerosis of hand bone Progressive clavicular acroosteolysis Reduced bone mineral density Lipoatrophy Fragile nails Neoplasm of the lung Insulin-resistant diabetes mellitus Prematurely aged appearance Secondary amenorrhea Ovarian neoplasm Sparse body hair Telangiectasia of the skin Glycosuria Decreased fertility Meningioma Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Premature graying of hair Calf muscle hypertrophy Rocker bottom foot Hyperglycemia Premature ovarian insufficiency Abnormality of the voice Hyperinsulinemia Laryngomalacia Progeroid facial appearance Osteolytic defects of the phalanges of the hand Neoplasm of the oral cavity Generalized lipodystrophy Premature arteriosclerosis Intervertebral disc degeneration Neoplasm of the thyroid gland Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Aortic valve calcification Neoplasm of the breast Abnormal hair quantity Renal neoplasm Abnormality of the pulmonary artery White forelock Exercise-induced myalgia Chondrocalcinosis Prominent superficial veins Abnormality of the testis Pili torti Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Vertebral wedging Choanal atresia Patchy alopecia EEG abnormality Abnormality of movement Carious teeth Generalized tonic-clonic seizures Abnormality of the liver Hyperlordosis Myalgia Proximal muscle weakness Elevated hepatic transaminase Difficulty walking Muscle cramps Constipation Dystonia Fatigue Gait disturbance Tremor Intrauterine growth retardation Hepatomegaly Pain Unsteady gait Chorea Optic nerve hypoplasia Athetosis Alacrima Muscle fiber atrophy Recurrent ear infections Speech apraxia Esophagitis Progressive proximal muscle weakness Restrictive ventilatory defect Adrenal insufficiency Impulsivity Waddling gait Gowers sign Limb-girdle muscular dystrophy Scapular winging Truncal ataxia Lower limb spasticity Apraxia Generalized-onset seizure Focal-onset seizure Abnormality of mitochondrial metabolism Absence seizures Intellectual disability, borderline Fasting hypoglycemia Behavioral abnormality Hydrocephalus Hypertelorism Periarticular subcutaneous nodules Cervical spinal canal stenosis Multiple skeletal anomalies Thoracic kyphoscoliosis Prelingual sensorineural hearing impairment Spinal canal stenosis Hypospadias Progressive sensorineural hearing impairment Bilateral sensorineural hearing impairment Growth hormone deficiency Sensory impairment Sensory neuropathy Distal sensory impairment Thick eyebrow Narrow mouth Intellectual disability, mild Autism Aciduria Upslanted palpebral fissure Increased serum lactate Distal amyotrophy Long face Peripheral axonal neuropathy Abnormality of the foot Hypertrophic cardiomyopathy High forehead Mandibular prognathia Cardiomyopathy Gastroesophageal reflux Constrictive median neuropathy Relative macrocephaly Schizophrenia Hallucinations Tetralogy of Fallot Arthrogryposis multiplex congenita Autistic behavior Anxiety Right ventricular dilatation Cerebral white matter atrophy Scarring alopecia of scalp Malar flattening Sparse hair Erythema Postnatal growth retardation Abnormality of the nervous system Clinodactyly of the 5th finger Depressivity Midface retrusion Microphthalmia Edema Ichthyosis Unilateral breast hypoplasia Abnormality of thyroid physiology Flared nostrils Lower limb asymmetry Abnormal cortical gyration Abnormality of the genitourinary system Sacral dimple Renal dysplasia Talipes Rhizomelia Hypotelorism Congenital ichthyosiform erythroderma Butterfly vertebrae Abnormality of hair texture Dry hair Concave nasal ridge Tracheal stenosis Patellar dislocation Foot polydactyly Epiphyseal stippling Bilateral talipes equinovarus Abnormal vertebral morphology Erythroderma Scaling skin Coarse hair Sparse eyelashes Abnormality of the fingernails Joint dislocation Hemivertebrae Sparse and thin eyebrow Short palpebral fissure Prominent nose Exophoria Cerebral visual impairment Hip contracture Long palpebral fissure 2-3 toe syndactyly Elevated alkaline phosphatase Disproportionate short-limb short stature Knee flexion contracture Elbow flexion contracture Aspiration Abnormal lung morphology Chronic lung disease Wide mouth Respiratory tract infection Developmental regression Abdominal pain Inguinal hernia Clinodactyly Dilatation Vomiting Large earlobe Thickened helices Bifid uvula Posteriorly rotated ears Tapered finger Short foot Small hand Astigmatism Facial asymmetry Low-set, posteriorly rotated ears Joint laxity Thin upper lip vermilion Pes cavus Enterocolitis Recurrent respiratory infections Patent ductus arteriosus Respiratory distress Wide nasal bridge Cleft palate EEG with multifocal slow activity Echogenic fetal bowel Shortening of all distal phalanges of the fingers Prominent nasal tip Absent epiphyses



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