Microphthalmia, and Patent ductus arteriosus

Diseases related with Microphthalmia and Patent ductus arteriosus

In the following list you will find some of the most common rare diseases related to Microphthalmia and Patent ductus arteriosus that can help you solving undiagnosed cases.

Top matches:

TOTAL EARLY-ONSET CATARACT Is also known as cataract, congenital, x-linked|cataract, congenital total, with posterior sutural opacities in heterozygotes|cxn|cct|cataract 40 with or without microcornea

Related symptoms:

  • Cataract
  • Visual impairment
  • Ventricular septal defect
  • Microphthalmia
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOTAL EARLY-ONSET CATARACT

Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013).For a discussion of genetic heterogeneity of Adams-Oliver syndrome (AOS), see AOS1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Microphthalmia
  • Patent ductus arteriosus
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 4; AOS4

Medium match TETRA-AMELIA

Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndromeTetraamelia syndrome-2 (TETAMS2 ) is caused by mutation in the RSPO2 gene (OMIM ) on chromosome 8q23.

TETRA-AMELIA Is also known as total amelia|tetraamelia syndrome, autosomal recessive

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Hydrocephalus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TETRA-AMELIA

Other less relevant matches:

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Neoplasm
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome|mandibulofacial dysostosis without limb anomalies

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about TREACHER-COLLINS SYNDROME

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Patent ductus arteriosus

Symptoms // Phenotype % cases
Cataract Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microphthalmia and Patent ductus arteriosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Intrauterine growth retardation Microcephaly Pulmonary hypoplasia Cleft lip Agenesis of corpus callosum Low-set ears Global developmental delay Ventricular septal defect Encephalocele Cleft upper lip Abnormality of the genital system Renal dysplasia Hypertelorism Respiratory insufficiency Renal hypoplasia Short stature High palate Coarctation of aorta Vesicoureteral reflux Horseshoe kidney Hydronephrosis Inguinal hernia Wide nasal bridge Intellectual disability Anal atresia Abnormality of cardiovascular system morphology Hydrocephalus Frontal bossing Iris coloboma Atrial septal defect

Rare Symptoms - Less than 30% cases

Attention deficit hyperactivity disorder Aggressive behavior Occipital encephalocele Natal tooth Joint laxity Intellectual disability, moderate Preaxial polydactyly Visual impairment Spontaneous abortion Downslanted palpebral fissures Autism Bowing of the long bones Omphalocele Abnormality of the uterus Joint hyperflexibility Abnormal heart morphology Anxiety Hyperactivity Lobulated tongue Epicanthus Muscular hypotonia Generalized hypotonia Hernia Brachycephaly Optic nerve hypoplasia Arnold-Chiari malformation Pectus carinatum Macrocephaly Renal cyst Pulmonic stenosis Conductive hearing impairment Behavioral abnormality Intestinal malrotation Foot polydactyly Depressivity Clinodactyly of the 5th finger Prominent nose Truncus arteriosus Postaxial polydactyly Abnormal cardiac septum morphology Abnormality of the dentition Oral cleft Strabismus Renal agenesis Choanal atresia Anencephaly Single umbilical artery Asplenia Hypoplastic pelvis Abnormality of the diaphragm Urethral atresia Clinodactyly Dandy-Walker malformation Cerebellar hypoplasia Skeletal dysplasia Polydactyly Respiratory failure Macrotia Midface retrusion Wide mouth Abnormality of the adrenal glands Oligohydramnios Thyroid hypoplasia Abnormality of the middle ear Breech presentation Abnormality of the larynx Bile duct proliferation Blepharospasm Abnormality of the vertebral column Hepatic fibrosis Accessory spleen Absent eyelashes Abnormality of bone mineral density Ambiguous genitalia, male Glossoptosis Portal fibrosis Cerebellar dysplasia Facial cleft Cystic renal dysplasia Spina bifida Rectovaginal fistula Short neck Talipes Postaxial hand polydactyly Dilatation Syndactyly Splenomegaly Multicystic kidney dysplasia Polycystic kidney dysplasia Sloping forehead Radial deviation of finger Hypoplasia of the thymus Hydroureter Webbed neck Short face External genital hypoplasia Eyelid coloboma Hypotelorism Hypoplasia of the zygomatic bone Narrow internal auditory canal Branchial fistula Adrenal hypoplasia Meningocele Multiple enchondromatosis Abnormality of the ureter Short foot Ambiguous genitalia, female Hand polydactyly Single transverse palmar crease Psychosis Pulmonary arterial hypertension Dental crowding Stereotypy Anorexia Aortic valve stenosis Aspiration Narrow face Sandal gap Nasal speech Bipolar affective disorder High hypermetropia Broad hallux Schizophrenia Everted lower lip vermilion Sensorineural hearing impairment Joint hypermobility Toe syndactyly Autistic behavior Deeply set eye Long philtrum Talipes equinovarus Scoliosis Broad thumb Seizures Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Sleep disturbance Tapered finger Transposition of the great arteries Elevated alpha-fetoprotein Large placenta Hypertension Delayed speech and language development Cognitive impairment Ataxia Craniorachischisis Occipital meningocele Olfactory lobe agenesis Short nose Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Urethral obstruction Cerebral hypoplasia Neural tube defect Meningoencephalocele Gait disturbance Bulbous nose Long face Thin upper lip vermilion Abnormality of skin pigmentation Facial asymmetry Small for gestational age Prominent nasal bridge Short philtrum Respiratory tract infection Gastroesophageal reflux Interrupted aortic arch Gait ataxia Posteriorly rotated ears Open bite Broad hallux phalanx Pectus excavatum Hypospadias Dysphasia Pulmonary artery atresia Tracheoesophageal fistula Thoracic hypoplasia Tetraphocomelia Hypoplasia of the fallopian tube Adrenal gland agenesis Peripheral pulmonary vessel aplasia Coarse facial features Narrow chest Limb undergrowth Ambiguous genitalia Cerebellar vermis hypoplasia Rhizomelia Short ribs Microretrognathia Relative macrocephaly Molar tooth sign on MRI Tetraamelia Bell-shaped thorax Flat acetabular roof Thoracic dysplasia Bifid tongue Cleft soft palate Horizontal ribs Squared iliac bones Hypoplastic facial bones Unicoronal synostosis Neoplasm Anemia Myopia Thrombocytopenia Hypothyroidism Single naris Absent external genitalia Astigmatism Sutural cataract Glaucoma Congenital cataract Microcornea Laryngomalacia Stridor Preauricular pit Severe vision loss Nuclear cataract Inspiratory stridor Posterior polar cataract Polar cataract Cortical cataract Anterior polar cataract Lenticonus Posterior lenticonus Amelia Umbilical hernia Short toe Hypoplastic toenails Cutis marmorata Anonychia Aplasia cutis congenita Toenail dysplasia Absent distal phalanges Bilateral cleft lip Amniotic constriction ring Vaginal atresia Long penis Phocomelia Gastroschisis Pallor Neutropenia Abnormality of dental morphology Hypoplastic spleen Bilateral microphthalmos Diaphragmatic eventration Duodenal stenosis Annular pancreas Overriding aorta Single ventricle Pelvic kidney Renal malrotation Pulmonary artery hypoplasia Bilateral lung agenesis Right aortic arch with mirror image branching Mild intrauterine growth retardation Aplasia/Hypoplasia of the pancreas Hypoplastic left atrium Hiatus hernia Abnormal spleen morphology Agenesis of pulmonary vessels Malar flattening Narrow mouth Retrognathia Microtia Hypoplasia of the maxilla Hypoplasia of penis Preauricular skin tag Abnormality of the hair Low anterior hairline Abnormality of dental enamel Scrotal hypoplasia Reduced number of teeth Bicornuate uterus Hypoplasia of the uterus Triangular face Growth delay Growth hormone deficiency Short thumb Bone marrow hypocellularity Patent foramen ovale Absent thumb Absent septum pellucidum Duodenal atresia Short 1st metacarpal Fused cervical vertebrae Abnormal renal morphology Colpocephaly Small pituitary gland Chromosomal breakage induced by crosslinking agents Hearing impairment Flexion contracture Rocker bottom foot Respiratory distress Hypoplasia of the corpus callosum Severe short stature Abnormality of the kidney Camptodactyly Protruding ear Blepharophimosis Tetralogy of Fallot Congenital diaphragmatic hernia Bilateral sensorineural hearing impairment Intellectual disability, profound Abnormal lung morphology Abnormality of the genitourinary system Anophthalmia Ankyloglossia


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