Microphthalmia, and Congenital diaphragmatic hernia

Diseases related with Microphthalmia and Congenital diaphragmatic hernia

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


Top matches:

Medium match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Medium match BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

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

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Other less relevant matches:

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 PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Medium match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Medium match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Medium match FRYNS SYNDROME


Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Medium match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Medium match SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hernia Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microphthalmia and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect

Common Symptoms - More than 50% cases


Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases


Anophthalmia

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Hypertelorism Blepharophimosis Strabismus Feeding difficulties Hearing impairment Seizures Low-set ears Hydrocephalus Generalized hypotonia Cleft palate Retrognathia Intrauterine growth retardation Hypoplasia of the uterus Camptodactyly Gastroesophageal reflux Hypoplasia of the corpus callosum Muscular hypotonia Short nose Anteverted nares Ventriculomegaly Long philtrum Clinodactyly Micropenis Hyperactivity Posteriorly rotated ears Pulmonary hypoplasia High palate Ptosis Nystagmus Hypospadias Bicornuate uterus Hydronephrosis Depressed nasal bridge Iris coloboma Intestinal malrotation Inguinal hernia Abnormal heart morphology Renal agenesis Respiratory distress Abnormality of the genital system Intellectual disability, profound Patent ductus arteriosus Renal hypoplasia Coarctation of aorta Severe short stature Flexion contracture Broad forehead Truncus arteriosus Syndactyly Multicystic kidney dysplasia Abnormality of digit Proximal placement of thumb Short thumb Toe syndactyly Low-set, posteriorly rotated ears Polyhydramnios Brachydactyly Abnormality of dental enamel Amblyopia Corneal opacity Abnormal cardiac septum morphology Blindness Short neck Microretrognathia Pointed chin Renal cyst Attention deficit hyperactivity disorder Coloboma Wide mouth Autistic behavior Autism Polydactyly Obesity Recurrent infections Dilatation Failure to thrive Agenesis of corpus callosum Ureteral duplication Myopia Wide nose Aplasia cutis congenita Delayed speech and language development Severe global developmental delay Upslanted palpebral fissure Narrow palpebral fissure Epicanthus Hypertension Wide intermamillary distance Tetralogy of Fallot

Rare Symptoms - Less than 30% cases


Aplasia/Hypoplasia of the skin Hand polydactyly Anteriorly placed anus Pyloric stenosis Abnormal eyelash morphology Male pseudohermaphroditism Sclerocornea Retinal dysplasia Abnormality of the larynx Broad nasal tip Downslanted palpebral fissures Intellectual disability, severe Hypertonia Telecanthus Aggressive behavior Clitoral hypertrophy Dermal atrophy Abnormality of the nail Sensorineural hearing impairment Cataract Hypoplastic left atrium Hypogonadism Glaucoma Erythema Short chin Nail dystrophy Cafe-au-lait spot Severe intrauterine growth retardation Anal atresia Abnormality of skin pigmentation Unilateral renal agenesis Hypopigmentation of the skin Ambiguous genitalia Joint laxity Sparse hair Feeding difficulties in infancy Aganglionic megacolon Cleft upper lip Postaxial polydactyly Premature birth Dandy-Walker malformation Limb undergrowth Choanal atresia Omphalocele Finger syndactyly Cerebellar hypoplasia Spasticity Bifid scrotum Optic atrophy Hypoplastic nipples Oligodactyly Duodenal atresia Gastroschisis Cleft lip Postaxial hand polydactyly Camptodactyly of finger Brachycephaly Short toe Facial asymmetry Sleep disturbance Single transverse palmar crease Interphalangeal joint contracture of finger Small nail Muscular hypotonia of the trunk Hoarse voice Split hand Abnormality of the outer ear Abnormality of dental morphology Mild short stature Overlapping fingers Reduced number of teeth Renal hypoplasia/aplasia Abnormality of the skeletal system Edema Hypermetropia Bifid nose Underdeveloped nasal alae Midface retrusion Abnormality of the pinna Pulmonary artery atresia Deeply set eye Hiatus hernia Behavioral abnormality Macrotia Rocker bottom foot Holoprosencephaly Cupped ear Optic nerve hypoplasia Delayed myelination Highly arched eyebrow Narrow forehead Respiratory failure Short finger High forehead Abnormality of the kidney Protruding ear Abnormality of the genitourinary system Immunodeficiency Vesicoureteral reflux Macrocephaly Intellectual disability, mild Talipes equinovarus Respiratory insufficiency Horseshoe kidney Overriding aorta Small hand Abnormality of the diaphragm Smooth philtrum Cognitive impairment Tapered finger Sandal gap Oligodontia Self-mutilation Ectrodactyly Spina bifida occulta Short clavicles Congenital hip dislocation Increased body weight Supernumerary nipple Short ribs Short phalanx of finger Aniridia Abnormality of epiphysis morphology Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule Foot polydactyly Thin skin Spina bifida Arnold-Chiari malformation Facial cleft Ectropion Open bite Excessive daytime somnolence Abnormality of limbs Ureteropelvic junction obstruction Mixed hearing impairment Stridor Macule Colitis Tracheal stenosis Ectopia lentis Hypermelanotic macule Vertebral fusion Brittle hair Severe failure to thrive Short metatarsal Microglossia Narrow nasal bridge Telangiectasia of the skin Recurrent skin infections Postaxial foot polydactyly Chorioretinal coloboma Ectodermal dysplasia Advanced eruption of teeth Abnormal aortic arch morphology Dysphagia Neoplasm Aplasia/Hypoplasia affecting the eye Hypoplasia of the optic tract Abnormal renal morphology Ectopic pancreatic tissue Absent left hemidiaphragm Postaxial oligodactyly Hypoplasia of olfactory tract Facial hirsutism Broad clavicles Alopecia Urethral stricture Bilateral choanal atresia Prominent fingertip pads Gastroparesis Meckel diverticulum Shortening of all distal phalanges of the fingers Gastrointestinal dysmotility Arrhinencephaly Aplasia cutis congenita of scalp Chylothorax Abnormal aortic morphology Abnormality of the dentition Hyperhidrosis Sex reversal Abnormality of the foot Decreased circulating aldosterone level Overgrowth Abnormality of the skin Nail dysplasia Dental malocclusion Short metacarpal Bifid tongue Split foot Hypodontia Delayed eruption of teeth Breech presentation Cholestatic liver disease Abdominal pain Hypotrichosis Pruritus Papule Microtia Hypocholesterolemia Cough Scarring Umbilical hernia Reduced visual acuity Abnormal localization of kidney Weight loss Hypoplasia of the iris Hypopigmentation of hair Aplasia/Hypoplasia of the lungs Hypoglycemia Oligohydramnios Alveolar ridge overgrowth Eczema Talipes calcaneovalgus Peripheral demyelination Increased serum testosterone level Webbed neck Severe photosensitivity Micromelia Hip dislocation Intellectual disability, moderate Skeletal dysplasia Overlapping toe Proptosis Opsoclonus Constipation Hip subluxation Kyphosis Facial capillary hemangioma Diarrhea Vomiting Fever Midclavicular aplasia 2-3 toe syndactyly Midclavicular hypoplasia Hypoplasia of penis Absent nipple Apocrine hidrocystoma Septate vagina Sleep-wake cycle disturbance Hammertoe Self-injurious behavior Cutis marmorata Hyponatremia Precocious puberty Metatarsus adductus Poor suck Abnormality of the urinary system Abnormality of the metacarpal bones Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Abnormal dermatoglyphics Decreased fetal movement Hypercholesterolemia Hyperbilirubinemia Gingival overgrowth Rhizomelia Dental crowding Abnormal form of the vertebral bodies Abnormality of the gallbladder Hypoplasia of the frontal lobes Recurrent otitis media Periventricular gray matter heterotopia Cutaneous photosensitivity Abnormality of the ribs Giant cell tumor of bone Cholesteatoma Upper limb undergrowth Atrioventricular canal defect Hand oligodactyly Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Verrucae Ulcerative colitis Increased nuchal translucency Ectopic calcification Mesomelia Lower limb asymmetry Abnormality of hair texture Hypoplastic pelvis Biparietal narrowing Increased number of teeth Ulnar deviation of finger Aplasia/Hypoplasia of the radius Aplasia/Hypoplasia of the cerebellum Acute hepatic failure Diastasis recti Epiphyseal stippling Myelomeningocele Stenosis of the external auditory canal Abnormal lung lobation Abnormal cornea morphology Total anomalous pulmonary venous return Linear hyperpigmentation Hyperkalemia Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Adrenal insufficiency Median cleft palate Cleft ala nasi Mesomelic short stature Broad alveolar ridges Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Papilloma Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly Abnormality of the middle ear Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Osteopathia striata Open mouth Interrupted aortic arch Cardiomyopathy Pigmentary retinopathy Specific learning disability Retinal dystrophy Tachycardia Dilated cardiomyopathy Skin rash Hypertrophic cardiomyopathy Dyspnea Arrhythmia Visual loss Abnormality of metabolism/homeostasis Absent nasal bridge Status epilepticus Widely-spaced maxillary central incisors Chorioretinitis Optic nerve coloboma Hydrocele testis Missing ribs Multiple renal cysts Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Long nose Combined immunodeficiency Mitral valve prolapse Mitral regurgitation Bilateral ptosis Congenital glaucoma Periventricular leukomalacia Colpocephaly Abnormality of the testis Supraventricular tachycardia Echolalia Abnormal eyelid morphology Ocular albinism Posterior embryotoxon Anencephaly Absent septum pellucidum Abnormality of the ear Dysphasia Abnormality of retinal pigmentation Aphasia Albinism Preauricular pit Tricuspid regurgitation Ventricular fibrillation Patent foramen ovale Mutism Hypopigmented skin patches Sacral dimple Intellectual disability, progressive Hyperpigmentation of the skin Language impairment Aortic regurgitation Abnormality of earlobe Increased circulating gonadotropin level Pulmonary arterial hypertension Ventricular hypertrophy Optic disc pallor Visual impairment Abnormal lacrimal duct morphology Abnormality of the breast Premature atrial contractions Female infertility Unilateral ptosis Epicanthus inversus Congenital ptosis Premature ovarian insufficiency Erythroderma Abnormality of the hair Primary amenorrhea Amenorrhea Microcornea Infertility Synophrys Spastic tetraparesis Short palpebral fissure Tetraparesis Chorea Dystonia Spontaneous abortion Pectus carinatum Hemivertebrae Mild intrauterine growth retardation Psychosis Flat face Talipes EEG abnormality Malar flattening Congestive heart failure Motor delay Agenesis of pulmonary vessels Abnormal spleen morphology Hypoplastic spleen Aplasia/Hypoplasia of the pancreas Right aortic arch with mirror image branching Pulmonic stenosis Bilateral lung agenesis Pulmonary artery hypoplasia Renal malrotation Pelvic kidney Single ventricle Annular pancreas Duodenal stenosis Diaphragmatic eventration Bilateral microphthalmos Abnormality of the uterus Abnormal lung morphology Bilateral sensorineural hearing impairment Chordee Epispadias Cystic renal dysplasia Abnormality of the nervous system Opacification of the corneal stroma Finger clinodactyly Joint contracture of the hand Renal dysplasia Abnormality of the face Heterotopia Depressed nasal ridge Gliosis Short distal phalanx of finger Narrow chest Abnormality of the eye Thin upper lip vermilion Pterygium Coarse facial features Cerebral cortical atrophy Myoclonus Clinodactyly of the 5th finger Areflexia Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Large fleshy ears Tented upper lip vermilion Large for gestational age Anisocoria Thickened nuchal skin fold Aplasia/Hypoplasia of the nipples Ovarian cyst Abnormality of the helix Broad ribs Hypoplastic fingernail Ectopic anus Asplenia Abnormality of finger Bilateral cleft lip and palate Polysplenia Bilateral cleft lip Broad neck Anonychia Median cleft lip Overweight Esophageal atresia Shawl scrotum Atrophy/Degeneration affecting the brainstem Thin ribs Cystic hygroma Partial agenesis of the corpus callosum Non-midline cleft lip Thoracic hypoplasia Hydroureter Dysplastic corpus callosum Flared nostrils Abnormal nasolacrimal system morphology Vitritis Joint hyperflexibility Small for gestational age Prominent nasal bridge Postnatal growth retardation Developmental regression Narrow mouth Pes cavus Anal fistula Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Histiocytoid cardiomyopathy Long face Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Mandibular aplasia Abnormality of the anus Tricuspid valve prolapse Arachnodactyly Thin vermilion border Toe clinodactyly Slender finger Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Wide nasal base Thick hair Intestinal atresia Microphallus Thick upper lip vermilion High anterior hairline Insomnia Radial deviation of finger Polymicrogyria Abnormality of the thorax Abnormality of the voice Nasal speech Widely spaced teeth Bilateral single transverse palmar creases Narrow face Sparse and thin eyebrow Fine hair Thick lower lip vermilion Growth hormone deficiency High, narrow palate Short palm Elevated 7-dehydrocholesterol



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Upslanted palpebral fissure, related diseases and genetic alterations

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