Hypertelorism, and Congenital cataract

Diseases related with Hypertelorism and Congenital cataract

In the following list you will find some of the most common rare diseases related to Hypertelorism and Congenital cataract that can help you solving undiagnosed cases.

Top matches:

Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Other less relevant matches:

Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

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

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Top 5 symptoms//phenotypes associated to Hypertelorism and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Congenital cataract. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Visual impairment Low-set ears Hearing impairment Spasticity Growth delay Microcephaly Generalized hypotonia Short stature Ptosis Nystagmus Downslanted palpebral fissures Long philtrum Microphthalmia Micrognathia Short philtrum Posteriorly rotated ears Dilatation Intrauterine growth retardation Anemia Myopia Depressed nasal bridge Sensorineural hearing impairment Ventriculomegaly Epicanthus Cleft palate Strabismus Flexion contracture Short nose Thin upper lip vermilion

Rare Symptoms - Less than 30% cases

Convex nasal ridge Hypertonia Cerebellar hypoplasia Protruding ear Syndactyly Brachydactyly High hypermetropia Small nail Hypermetropia Low anterior hairline Abnormality of the liver Malar flattening Prominent forehead Cerebral atrophy Macrocephaly Muscular hypotonia of the trunk Mandibular prognathia Thin vermilion border Failure to thrive Polymicrogyria Radioulnar synostosis Gliosis Delayed cranial suture closure Hepatomegaly Visual loss Intellectual disability, severe High myopia Deeply set eye Webbed neck Short neck Abnormality of the skeletal system Macrotia Coarse facial features Smooth philtrum Tetraparesis Spastic tetraparesis Retinal detachment Scoliosis Hypoplasia of the corpus callosum Kyphosis Tented upper lip vermilion Depressivity Wide nasal bridge Abnormal cardiac septum morphology Photophobia Decreased liver function Cardiomyopathy Anteverted nares Intellectual disability, profound Iris hypopigmentation Fever Status epilepticus Subcapsular cataract Pachygyria Hyperreflexia Postnatal microcephaly Long fingers Cerebral visual impairment Sloping forehead Opacification of the corneal stroma Microretrognathia Proptosis Purpura Lissencephaly Petechiae Aplasia/Hypoplasia of the lens Increased CSF protein Congenital microcephaly Frontal bossing Preauricular pit Left hemiplegia Abnormality of the intervertebral disk Splenomegaly Unilateral cryptorchidism Facial hypotonia Shield chest Micropenis Cerebral cortical atrophy Long toe Thickened helices Disproportionate short-trunk short stature Jaundice Thrombocytopenia Hepatosplenomegaly Elevated hepatic transaminase Vertebral compression fractures Hypertrophic cardiomyopathy Cerebral calcification Skin rash Corneal opacity Generalized tonic-clonic seizures Abnormality of the antihelix Abnormality of movement Dysplastic aortic valve Tetraplegia Abnormal eyebrow morphology Posterior subcapsular cataract Thoracic kyphosis Neuronal loss in central nervous system Renal insufficiency High palate Hypoplasia of the radius Hypothyroidism Agenesis of corpus callosum Wide intermamillary distance Single transverse palmar crease Short foot Short distal phalanx of finger Bulbous nose Abnormality of the nervous system Alopecia Blue sclerae Abnormal heart morphology Hydrocephalus Optic atrophy Delayed speech and language development Synostosis of joints Crossed fused renal ectopia Oligohydramnios Wide anterior fontanel Foot oligodactyly Periventricular leukomalacia Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Aplasia cutis congenita of scalp Corpus callosum atrophy Lymphedema Aplasia cutis congenita Short finger Cutis marmorata Dermal atrophy Cerebral palsy Narrow palpebral fissure Bilateral renal hypoplasia Absent fingernail Retrognathia Renal agenesis Congenital hip dislocation Short thumb Abnormality of the genital system Abnormal form of the vertebral bodies Renal hypoplasia Abnormality of the ribs Hypodontia Narrow palate High, narrow palate Micromelia Toe syndactyly Hip dislocation Finger syndactyly Prominent nasal bridge Hemivertebrae Abnormality of dental enamel Absent toenail Hypoplasia of the ulna Synostosis of carpal bones Oligodactyly Congenital hypothyroidism Abnormality of digit Absent thumb Mixed hearing impairment Ectropion Abnormal dermatoglyphics Elbow dislocation Systemic lupus erythematosus Deep philtrum Increased susceptibility to fractures Laryngomalacia Abnormality of the metacarpal bones Renal hypoplasia/aplasia Hemiplegia Cone/cone-rod dystrophy Hyperextensible skin Shallow orbits Midface retrusion Upslanted palpebral fissure Brachycephaly Narrow mouth High forehead Camptodactyly Microtia Nail dystrophy Flat face Tapered finger Sparse scalp hair Mild short stature Pericarditis Arnold-Chiari type I malformation Broad philtrum Abnormality of the dentition Infertility Basal ganglia calcification High pitched voice Hypocalcemia Increased bone mineral density Decreased testicular size Neutropenia Carious teeth Broad eyebrow Small for gestational age Postnatal growth retardation Severe short stature Delayed skeletal maturation Edema Craniofacial asymmetry Intellectual disability, mild Pulverulent cataract Papilledema Abnormality of cardiovascular system morphology Cerebellar atrophy Neonatal hypotonia Highly arched eyebrow Rhizomelia Progressive spastic quadriplegia Hypospadias Hydronephrosis Sparse hair Everted lower lip vermilion Microcornea Nevus Sparse eyebrow Nevus flammeus Cryptorchidism Clinodactyly of the 5th finger Nuclear cataract Hypoplastic toenails Ectopic anus Abnormality of the elbow Increased serum ferritin Iron deficiency anemia Microcytic anemia Non-midline cleft lip Polycystic ovaries Low-set, posteriorly rotated ears Abnormality of the fingernails Bilateral single transverse palmar creases Hypoplasia of penis Anal atresia Severe global developmental delay Joint stiffness Proportionate short stature Hypoparathyroidism Accelerated skeletal maturation Hyperthreoninemia Hemiplegia/hemiparesis Abnormality of neuronal migration Keratoconus Hyperactive deep tendon reflexes Congenital blindness Severe vision loss Pendular nystagmus Decreased light- and dark-adapted electroretinogram amplitude Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellar vermis Talipes equinovalgus Fundus atrophy Eye poking Hyperthreoninuria Muscle weakness Abnormality of retinal pigmentation Joint hyperflexibility Amblyopia Decreased body weight Low posterior hairline Lumbar hyperlordosis Mitral valve prolapse Unsteady gait Platyspondyly Ventricular septal defect Pectus carinatum Hyperlordosis Pes planus Osteopenia Osteoporosis Atrial septal defect Abnormal electroretinogram Exotropia Hyperphosphatemia Retinal calcification Decreased skull ossification Tetany Delayed closure of the anterior fontanelle Bilateral microphthalmos Persistence of primary teeth Hypocalcemic seizures Hypocalcemic tetany Thickened cortex of long bones Congenital hypoparathyroidism Postnatal macrocephaly Cortical thickening of long bone diaphyses Thin long bone diaphyses Stenosis of the medullary cavity of the long bones Calvarial osteosclerosis Transient hypophosphatemia Encephalocele Retinopathy Cerebellar vermis hypoplasia Narrow forehead Pigmentary retinopathy Retinal dystrophy Retinal degeneration Talipes Abnormality of the kidney Abnormal circulating follicle-stimulating hormone level Abnormality of the eye Rod-cone dystrophy Blindness Tremor Muscular hypotonia Abnormality of the medullary cavity of the long bones Retinal nonattachment


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Gynecomastia, related diseases and genetic alterations Hydrocephalus and Myopia, related diseases and genetic alterations Pain and Vertigo, related diseases and genetic alterations Immunodeficiency and Cerebral cortical atrophy, related diseases and genetic alterations Cryptorchidism and Bronchiectasis, related diseases and genetic alterations