Cataract, and Pes planus

Diseases related with Cataract and Pes planus

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

Top matches:

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Other less relevant matches:

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.

SPONDYLOCARPOTARSAL SYNOSTOSIS Is also known as synspondylism, congenital|synspondylism|vertebral fusion with carpal coalition|scoliosis, congenital, with unilateral unsegmented bar|spondylocarpotarsal syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOCARPOTARSAL SYNOSTOSIS

Top 5 symptoms//phenotypes associated to Cataract and Pes planus

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cataract and Pes planus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Microcephaly Hearing impairment Thin upper lip vermilion Hypertelorism Global developmental delay Micrognathia Strabismus Nystagmus Clinodactyly Kyphosis Broad nasal tip Cleft palate Cryptorchidism Pes cavus Short neck Thin vermilion border Seizures Muscular hypotonia Spasticity Scoliosis

Rare Symptoms - Less than 30% cases

Delayed skeletal maturation Macrocephaly Narrow mouth Hyperlordosis Long philtrum Hypermetropia Small hand Thoracic kyphosis Posterior subcapsular cataract Subcapsular cataract Flexion contracture Microphthalmia Frontal bossing Talipes equinovarus Decreased body weight Prominent forehead Skeletal dysplasia Large forehead Retinal detachment Clinodactyly of the 5th finger Prominent supraorbital ridges Mixed hearing impairment Prominent nasal bridge Disproportionate short-trunk short stature Deeply set eye Malar flattening Prominent nose Midface retrusion Cerebellar atrophy Dysmetria Poor speech Intellectual disability, moderate Myopia Gait ataxia Cerebellar hypoplasia Delayed eruption of teeth Absent speech Bifid uvula Intention tremor Gait disturbance Tremor Skeletal muscle atrophy Dysarthria Hyperreflexia Motor delay Esotropia Ataxia Joint hyperflexibility Unsteady gait Osteopenia Dysdiadochokinesis Epicanthus Joint laxity Growth delay Nonprogressive cerebellar ataxia Gaze-evoked nystagmus Severe sensorineural hearing impairment Posterior Y-sutural cataract Elliptocytosis Sutural cataract Broad distal phalanx of finger Mild conductive hearing impairment Cleft hard palate Capillary hemangioma Visual loss Muscle weakness Hemangioma High iliac wings Low-set ears Visual impairment Ventricular septal defect Atrial septal defect Depressivity Posterior wedging of vertebral bodies Punctate cataract Patent foramen ovale Narrow iliac wings Delayed closure of the anterior fontanelle Premature loss of teeth Downslanted palpebral fissures Patent ductus arteriosus Brittle hair Conductive hearing impairment Hypoplasia of teeth Hydronephrosis Broad forehead Synophrys Decreased skull ossification Talipes Joint hypermobility Flat face Renal dysplasia Dental crowding Anemia Forehead hyperpigmentation Finger clinodactyly Nephrocalcinosis Hypercalciuria Coarse hair Abnormal eyebrow morphology Posteriorly rotated ears Mesomelia Abnormality of the kidney Renal cyst Round face Otitis media Abnormality of the ribs Recurrent otitis media Hypoplasia of dental enamel Abnormality of retinal pigmentation Abnormal vertebral morphology Preauricular skin tag Abnormality of pelvic girdle bone morphology Epiphyseal dysplasia Restrictive ventilatory defect Hernia Tarsal synostosis Disproportionate short stature Hypoplasia of the odontoid process Carpal synostosis Broad face Delayed ossification of carpal bones Platybasia Basilar impression Block vertebrae Capitate-hamate fusion Cervical spine instability Bowed humerus Short nasal septum Severe short stature Short nose Osteoporosis Preauricular pit Abnormal cardiac septum morphology Pectus carinatum Platyspondyly Congenital cataract Webbed neck Mitral valve prolapse Lumbar hyperlordosis Low posterior hairline Amblyopia Accelerated skeletal maturation Hyperextensible skin Increased susceptibility to fractures Hemiplegia Long fingers Brachydactyly Iris hypopigmentation Hyperpigmentation of the skin Abnormality of the antihelix Facial hypotonia Vertebral compression fractures Thickened helices Shield chest Unilateral cryptorchidism Long toe Abnormality of the intervertebral disk Aplasia/Hypoplasia of the lens Dysplastic aortic valve Left hemiplegia Wide anterior fontanel Specific learning disability Large fontanelles Periorbital fullness Coloboma Microcornea Long eyelashes Rhizomelia Knee flexion contracture Deep philtrum Precocious puberty Chorioretinal coloboma Anophthalmia Sclerocornea Ectopia pupillae Monocular strabismus Syndactyly Neoplasm Pain Pectus excavatum Abdominal pain Kyphoscoliosis Carcinoma Hepatic failure Bulbous nose Single transverse palmar crease Triangular face Elbow flexion contracture Hypospadias Slender finger Premature graying of hair Truncal ataxia Cognitive impairment Intellectual disability, severe Abnormality of metabolism/homeostasis Babinski sign Neonatal hypotonia Abnormality of the eye Abnormality of movement Arachnodactyly Progressive cerebellar ataxia Broad-based gait Pachygyria Cerebral palsy Broad hallux Abnormality of vision Hypoplasia of the brainstem Toe walking Cortical gyral simplification Abnormality of the skeletal system Upslanted palpebral fissure Abnormality of the cerebral white matter Underdeveloped nasal alae Short palpebral fissure Postnatal microcephaly Sandal gap Overlapping toe Lipodystrophy Hepatocellular carcinoma Microdontia High palate Decreased testicular size Gynecomastia Hypogonadotrophic hypogonadism Emotional lability Decreased muscle mass Truncal obesity Misalignment of teeth Malar prominence Uplifted earlobe Short ear Failure to thrive Wide nasal bridge Short foot Optic atrophy Anteverted nares Gastroesophageal reflux Wide mouth Sparse hair Narrow chest Carious teeth Pulmonic stenosis Smooth philtrum Abnormality of skin pigmentation Wide nose Hypoplasia of the maxilla Tapered finger Thick eyebrow Down-sloping shoulders Ocular albinism Thoracic kyphoscoliosis Fulminant hepatic failure Behavioral abnormality Hyporeflexia Malabsorption Hypopigmentation of the skin Abnormal cerebellum morphology Gliosis Limb ataxia Incoordination Hyperactive deep tendon reflexes Enlarged cisterna magna Delayed puberty Generalized hypopigmentation White hair Abnormality of the retinal vasculature Dilated fourth ventricle Saccadic smooth pursuit Obesity Hypogonadism Brachycephaly Micropenis Retrognathia Microtia Neurological speech impairment C2-C3 subluxation


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