Frontal bossing, and Congenital cataract

Diseases related with Frontal bossing and Congenital cataract

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

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

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

Other less relevant matches:

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

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

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

High match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Top 5 symptoms//phenotypes associated to Frontal bossing and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Growth delay Scoliosis Microcephaly Short stature Cryptorchidism Hearing impairment Muscular hypotonia Microphthalmia Depressed nasal bridge Wide nasal bridge Malar flattening Hypertelorism Nystagmus Sensorineural hearing impairment Protruding ear Cleft palate Abnormal facial shape Deeply set eye Myopia Short nose Upslanted palpebral fissure High palate Optic nerve hypoplasia Flexion contracture Hip dislocation Abnormality of the dentition Ventriculomegaly Proptosis Abnormality of the genital system Long philtrum Glaucoma Epicanthus Corneal opacity Feeding difficulties Coloboma Posteriorly rotated ears Strabismus Macrocephaly Hernia

Rare Symptoms - Less than 30% cases

Intrauterine growth retardation Failure to thrive Downslanted palpebral fissures Hemivertebrae Abnormality of the ribs Aciduria Esotropia Osteoarthritis Amblyopia Respiratory insufficiency Intellectual disability, severe Increased serum lactate Microcornea Buphthalmos Heterotopia Hypoplasia of penis Abnormality of dental enamel Midface retrusion Congenital glaucoma Retrognathia Concave nasal ridge Motor delay Hypoplasia of the corpus callosum Hydrocephalus Congenital contracture Dilatation Abnormality of epiphysis morphology Cleft lip Abnormality of the metaphysis Agenesis of corpus callosum Iris coloboma Polymicrogyria Flat face Generalized hypopigmentation Delayed eruption of teeth Broad forehead Specific learning disability Narrow palate Anophthalmia Long face Hypospadias Spasticity Bifid uvula Low-set, posteriorly rotated ears Hyporeflexia Intellectual disability, moderate Micropenis Patent ductus arteriosus Sparse scalp hair Prominent forehead Visual impairment Depressivity Chorioretinal dysplasia Anteverted nares Platyspondyly Anemia Genu valgum Retinal detachment Microtia Postnatal growth retardation Optic atrophy Mandibular prognathia Areflexia Delayed puberty Pectus carinatum Dental crowding Blindness Talipes equinovarus High forehead Ptosis Deep philtrum Abnormality of the skeletal system Inguinal hernia Abnormal levels of creatine kinase in blood Abnormality of neuronal migration Thickened calvaria Excessive daytime sleepiness Absent septum pellucidum Occipital encephalocele Submucous cleft hard palate Sparse eyebrow Remnants of the hyaloid vascular system Retinal atrophy Megalocornea Type II lissencephaly Cerebellar dysplasia Agyria Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Bilateral cleft lip Aqueductal stenosis Retinal dysplasia Cerebellar cyst Abnormal cortical gyration Abnormality of the optic nerve Posterior fossa cyst Peters anomaly Muscle fiber splitting Retinal dystrophy Aplasia cutis congenita Calcification of falx cerebri Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Vitreoretinopathy Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Abnormal vitreous humor morphology Skeletal muscle atrophy Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Radial bowing Hypoplastic ilia Thick upper lip vermilion Hypoplasia of the zygomatic bone Muscle weakness Myopathy Hypoplasia of the brainstem Cerebellar vermis hypoplasia Congenital muscular dystrophy Atresia of the external auditory canal Lissencephaly Severe muscular hypotonia Renal dysplasia Pachygyria Pierre-Robin sequence Encephalocele Intellectual disability, profound Elevated serum creatine phosphokinase Dandy-Walker malformation Oral cleft Cleft upper lip Anal atresia Abnormality of the cerebral white matter Muscular dystrophy Retinopathy Hydronephrosis Cerebellar hypoplasia Ectopia lentis Malabsorption Abnormality of the cerebellar vermis Dysphasia Gingivitis Atypical scarring of skin Patellar dislocation Multiple renal cysts Joint swelling Renal tubular acidosis Osteomalacia Glomerulopathy Abnormal joint morphology Hyperparathyroidism Pathologic fracture Hypophosphatemia Periodontitis Open bite Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyponatremia Chronic otitis media Self-injurious behavior Glomerulonephritis Rickets Abnormality of the voice Hypokalemia Hyperaldosteronism Taurodontia Reduced number of teeth Elevated serum acid phosphatase Hypoammonemia Wrist swelling Lentiglobus Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Abnormality of calcium-phosphate metabolism Renal tubular dysfunction Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Hyperphosphaturia Atelectasis Hypercalciuria Hypercholesterolemia Metatarsus valgus Constipation Proteinuria Anxiety Arthritis Neonatal hypotonia EEG abnormality Thin upper lip vermilion Umbilical hernia Gastroesophageal reflux Acidosis Reduced visual acuity Recurrent respiratory infections Thrombocytopenia Feeding difficulties in infancy Renal insufficiency Kyphosis Behavioral abnormality Cognitive impairment Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Aggressive behavior Irritability Neoplasm of the skin Fine hair Azoospermia Aminoaciduria Nephrocalcinosis Joint contracture of the hand Skin ulcer Clonus Stereotypy Nephrolithiasis Hypoplasia of dental enamel Subcutaneous nodule Open mouth Dehydration Joint stiffness Full cheeks Abnormal bleeding Recurrent fractures Metabolic acidosis Everted lower lip vermilion Hematuria Joint hypermobility Joint hyperflexibility Carious teeth Coxa valga Attention deficit hyperactivity disorder Camptodactyly of finger Sparse eyelashes Single transverse palmar crease Sparse and thin eyebrow Limitation of joint mobility Severe failure to thrive Epiphyseal stippling Sparse body hair Flared metaphysis Epiphyseal dysplasia Spina bifida occulta Rhizomelia Congenital diaphragmatic hernia Limb undergrowth Short distal phalanx of finger Delayed CNS myelination Pulmonary hypoplasia Ichthyosis Dry skin Pulmonic stenosis Severe global developmental delay Kyphoscoliosis Cerebral cortical atrophy Severe short stature Alopecia Polysplenia Multiple epiphyseal dysplasia Atrial septal defect High, narrow palate Renal hypoplasia/aplasia Abnormal dermatoglyphics Congenital hip dislocation Short thumb Abnormal form of the vertebral bodies Renal hypoplasia Convex nasal ridge Renal agenesis Hypodontia Micromelia Coronal cleft vertebrae Toe syndactyly Finger syndactyly Prominent nasal bridge Short philtrum Hypothyroidism Syndactyly Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Abnormality of metabolism/homeostasis Pain Laryngomalacia Autistic behavior Unilateral renal agenesis Adducted thumb Cutis laxa Aortic regurgitation Spontaneous abortion Wormian bones Thin skin Oligohydramnios Triangular face Osteopenia Delayed cranial suture closure Autism Blue irides Osteopetrosis Shallow orbits Premature graying of hair Albinism Preauricular pit Congenital sensorineural hearing impairment Telecanthus Brisk reflexes Reduced subcutaneous adipose tissue Abnormality of mitochondrial metabolism Delayed skeletal maturation Absence seizures Hip dysplasia Inability to walk Distal amyotrophy Peripheral axonal neuropathy Abnormality of the foot Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Gait ataxia Absent speech Spinal canal stenosis Cerebellar atrophy Cardiomyopathy Peripheral neuropathy Delayed speech and language development Ataxia Small foramen magnum Dermal translucency Calcaneovalgus deformity Premature skin wrinkling Abnormality of the metacarpal bones Hypoplasia of the radius Hypohidrosis Chorioretinal coloboma Rib fusion 11 pairs of ribs Missing ribs Sclerocornea Esophageal atresia Increased number of teeth Vertebral fusion Spastic diplegia Tracheoesophageal fistula Patent foramen ovale Periventricular leukomalacia Holoprosencephaly Hypogonadotrophic hypogonadism Abnormal vertebral morphology Spastic tetraplegia Growth hormone deficiency Facial palsy Hypogonadism Abnormal heart morphology Visual loss Gonadotropin deficiency Butterfly vertebrae Neurocytoma Arthralgia Recurrent otitis media Thick lower lip vermilion High myopia Cerebral calcification Otitis media Ectodermal dysplasia Hypoplasia of the maxilla Hypotrichosis Sparse hair Brachycephaly Anterior pituitary hypoplasia Hyperhidrosis Proximal esophageal atresia Cervical hemivertebrae Glandular hypospadias Hypothalamic hamartoma Multiple impacted teeth Absent gallbladder Vertebral hypoplasia Supernumerary ribs Ventricular septal defect Triangular nasal tip Systemic lupus erythematosus Absent toenail Respiratory distress Short neck Fatigue Neoplasm Synostosis of joints Crossed fused renal ectopia Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Synostosis of carpal bones Abnormality of the kidney Oligodactyly Congenital hypothyroidism Abnormality of digit Absent thumb Mixed hearing impairment Hypoplasia of the ulna Ectropion Elbow dislocation Radioulnar synostosis Obesity Neurological speech impairment Hemoglobin H Protruding tongue Reduced alpha/beta synthesis ratio Flat forehead Hypochromic anemia Asymmetry of the thorax Hypochromic microcytic anemia Aplasia/Hypoplasia of the earlobes Brain neoplasm Osteosarcoma Myelomeningocele Underdeveloped supraorbital ridges Talipes Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Radial deviation of finger Polycystic kidney dysplasia Spina bifida Short toe Webbed neck Macroglossia Bruising susceptibility Dense posterior cortical cataract


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