Microphthalmia, and Tetralogy of Fallot

Diseases related with Microphthalmia and Tetralogy of Fallot

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


Top matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

Medium match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Medium match FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

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Other less relevant matches:

Medium match ACRO-RENAL-OCULAR SYNDROME


Acro-renal-ocular syndrome (AROS) is a syndrome of multiple congenital anomalies and is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ACRO-RENAL-OCULAR SYNDROME

Medium match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Medium match MATTHEW-WOOD SYNDROME


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

Medium match TOWNES-BROCKS SYNDROME


Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome|tbs|rear syndrome|townes syndrome|imperforate anus with hand, foot and ear anomalies|sensorineural deafness with imperforate anus and hypoplastic thumbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOWNES-BROCKS SYNDROME

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Medium match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Medium match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Top 5 symptoms//phenotypes associated to Microphthalmia and Tetralogy of Fallot

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microphthalmia and Tetralogy of Fallot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Intrauterine growth retardation Microcephaly Growth delay Brachycephaly Iris coloboma Hearing impairment Failure to thrive Hypoplasia of the corpus callosum Abnormality of cardiovascular system morphology Epicanthus Wide nasal bridge Intellectual disability, mild Agenesis of corpus callosum Abnormal heart morphology Coloboma Cleft lip Scoliosis Vesicoureteral reflux Ptosis Abnormality of the kidney Camptodactyly Hypothyroidism Cryptorchidism Long philtrum Upslanted palpebral fissure Ventricular septal defect Severe short stature Brachydactyly Anophthalmia Talipes equinovarus Patent ductus arteriosus Seizures Conductive hearing impairment Hypoplasia of the maxilla Renal hypoplasia Chorioretinal coloboma Toe syndactyly Talipes Micrognathia Preauricular skin tag Low-set ears Alopecia Abnormal facial shape Global developmental delay Anal atresia Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Cranium bifidum occultum Nystagmus Short philtrum Pectoral muscle hypoplasia/aplasia Cleft upper lip Lipoma of corpus callosum Visual impairment Coarctation of aorta Premature birth Oral cleft Growth hormone deficiency Bifid nose Widow's peak Facial cleft Pulmonic stenosis Hypoplasia of penis Sensorineural hearing impairment Hypertension Anteverted nares Abnormality of the uterus Calvarial skull defect Abnormality of the genital system Broad columella Pulmonary artery atresia Preaxial hand polydactyly Triphalangeal thumb Abnormal pulmonary valve morphology Horseshoe kidney Finger syndactyly Crossed fused renal ectopia Preaxial polydactyly Renal malrotation Absent toe Postaxial polydactyly Pulmonary hypoplasia Broad hallux phalanx Blepharophimosis Protruding ear Abnormality of the thumb Abnormality of the ribs Underdeveloped nasal alae Congenital diaphragmatic hernia Abnormal cardiac septum morphology Renal agenesis Dilatation Telecanthus Muscular hypotonia Decreased testicular size Frontal bossing Posteriorly rotated ears Clinodactyly Hernia Sparse hair Short nose Generalized hypotonia Respiratory insufficiency Pulmonary arterial hypertension Sandal gap Cupped ear Microtia Joint contracture of the hand Hydrocephalus Clinodactyly of the 5th finger Micropenis Polydactyly Hypospadias Encephalocele Aplasia cutis congenita Median cleft lip Thrombocytopenia Round ear Cognitive impairment Skeletal muscle atrophy Abnormal hair laboratory examination Ventriculomegaly Feeding difficulties Syndactyly Hypertonia Delayed speech and language development Decreased head circumference Narrow foot Hyperreflexia Malar flattening Phimosis Abnormality of the nervous system Osteopenia Situs inversus totalis Pes cavus Diabetes mellitus Narrow mouth Mandibular prognathia Macrotia Thin upper lip vermilion Anxiety Prominent nose Narrow face Triangular face High, narrow palate Bulbous nose Long face Arachnodactyly Paraplegia Joint stiffness Spastic paraplegia Hypermetropia Abnormality of the hair Cachexia Moderately short stature Cerebral atrophy Macrodontia Anteverted ears Thin eyebrow Heterotaxy Abnormality of the rib cage Intellectual disability, severe Small face Blindness Behavioral abnormality Sparse lateral eyebrow Poor suck Pectus excavatum Ankylosis Sprengel anomaly Prominent metopic ridge High hypermetropia Spastic diplegia Mild short stature Failure to thrive in infancy Nasal speech Cerebellar hypoplasia Pulmonary artery stenosis EEG abnormality Dandy-Walker malformation Easy fatigability Scrotal hypoplasia Lymphedema Long eyelashes Abnormality of the face Heterotopia Fine hair Oligohydramnios Postaxial hand polydactyly Broad nasal tip Diabetes insipidus Postural instability Wide nose Hypotrichosis Craniosynostosis Intellectual disability, moderate Hypogonadism Macrocephaly Motor delay Depressed nasal bridge Radial deviation of finger Adrenal insufficiency Aplasia cutis congenita over posterior parietal area Agenesis of cerebellar vermis Midline facial cleft Frontal cutaneous lipoma Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Median cleft palate Parietal foramina Broad philtrum Multiple lipomas Alopecia totalis Bifid nasal tip Conical tooth Preaxial foot polydactyly Short columella Coronal craniosynostosis Meningocele Lipoma Occipital encephalocele Partial agenesis of the corpus callosum Aplasia cutis congenita on trunk or limbs Acrania Prominent nasal bridge Split hand Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Bicuspid aortic valve Leukopenia Meningitis Aortic valve stenosis Telangiectasia Pachygyria Hemiparesis Hypoplastic left heart Small nail Nail dysplasia Esotropia Gastrointestinal hemorrhage Ascites Short distal phalanx of finger Polymicrogyria Cirrhosis Leukemia Supernumerary nipple Cortical dysplasia Imperforate hymen Porencephalic cyst Periventricular cysts Cutis marmorata telangiectatica congenita Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Congenital hepatic fibrosis Aplasia/Hypoplasia of the skin Esophageal varix Abnormality of the upper limb Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Double outlet right ventricle Spasticity Central hypotonia Oligodactyly Cutaneous finger syndactyly High palate Bilateral microphthalmos Aplasia/Hypoplasia of the 3rd toe Postnatal growth retardation Vertebral segmentation defect Hypoplasia of the ulna Renal hypoplasia/aplasia Short thumb Aganglionic megacolon Short palpebral fissure Microcornea Aplasia/Hypoplasia of the frontal sinuses Short humerus Hypoplasia of the frontal bone Prominent glabella Caudal appendage Upper eyelid coloboma Wide nasal base Eyelid coloboma Absent eyebrow Sparse eyebrow Vertebral fusion Aplasia/Hypoplasia of the radius Finger clinodactyly Hypotelorism Anosmia EMG: myopathic abnormalities Hemangioma Holoprosencephaly Choanal atresia Depressed nasal ridge Ambiguous genitalia Specific learning disability Short hallux Ectodermal dysplasia Asthma Short distal phalanx of the thumb Radial club hand Abnormality of the radius Optic disc hypoplasia Bladder diverticulum Optic nerve coloboma Sparse eyelashes Recurrent pneumonia Precocious puberty Thoracic dysplasia Hamartoma of tongue Long thorax Hypoplastic pubic bone Uterus didelphys Horizontal ribs Lateral clavicle hook Complete atrioventricular canal defect Short tibia Laryngeal hypoplasia Fibular hypoplasia Natal tooth Short ribs Wide anterior fontanel Low posterior hairline Narrow chest Abnormality of the pinna Short neck Multiple skeletal anomalies Septate vagina Camptodactyly of finger Delayed myelination Low-set, posteriorly rotated ears Ureteral duplication Erythroderma Short chin Spontaneous abortion Ventricular hypertrophy Optic disc pallor Wide intermamillary distance Highly arched eyebrow Decreased calvarial ossification Retrognathia High forehead Hyperactivity Myopia Esophageal diverticulum Narrow sacroiliac notch Absent nasal bridge Large posterior fontanelle Tented upper lip vermilion Narrow nasal bridge Rectoperineal fistula Wide mouth Spina bifida Abnormal vertebral morphology Subcutaneous nodule Broad thumb Facial asymmetry Abnormality of the foot Delayed puberty Pes planus Cranial nerve paralysis Constipation Renal insufficiency Agenesis of pulmonary vessels Abnormal spleen morphology Hypoplastic left atrium Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Mild intrauterine growth retardation Spina bifida occulta Arnold-Chiari malformation Bilateral lung agenesis Rectovaginal fistula Abnormality of the tragus Urethral valve Bifid uterus Partial duplication of thumb phalanx Toe clinodactyly Epibulbar dermoid Abnormal vagina morphology Lower limb asymmetry Abnormality of vision Multiple renal cysts External ear malformation Ulnar deviation of finger Anteriorly placed anus Bowel incontinence Ectopic kidney Bifid scrotum Overfolded helix Right aortic arch with mirror image branching Pulmonary artery hypoplasia Hamartoma Semilobar holoprosencephaly Flexion contracture Midnasal stenosis Pyriform aperture stenosis Prominent median palatal raphe Single naris Torus palatinus Hypothalamic hamartoma Cyclopia Inguinal hernia Abnormality of the nasopharynx Single median maxillary incisor Nasal obstruction Panhypopituitarism Hyposmia Abnormality of chromosome segregation Duodenal atresia Maternal diabetes Respiratory distress Respiratory failure Pelvic kidney Hiatus hernia Single ventricle Overriding aorta Annular pancreas Abnormality of the diaphragm Duodenal stenosis Diaphragmatic eventration Bicornuate uterus Truncus arteriosus Hypoplasia of the uterus Hydronephrosis Rocker bottom foot Optic nerve hypoplasia Abnormality of the genitourinary system Abnormal lung morphology Intellectual disability, profound Bilateral sensorineural hearing impairment Intestinal malrotation Pectus carinatum Anterior basal encephalocele



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