Microphthalmia, and Polyhydramnios

Diseases related with Microphthalmia and Polyhydramnios

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


Top matches:

High match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

High match TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

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Other less relevant matches:

High match HEART AND BRAIN MALFORMATION SYNDROME; HBMS


Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

High match HYDROLETHALUS SYNDROME 1; HLS1


Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

High match VACTERL WITH HYDROCEPHALUS


VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

High match X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA


X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

High match NEU-LAXOVA SYNDROME


Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

High match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Polyhydramnios

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Agenesis of corpus callosum Common - Between 50% and 80% cases
Dandy-Walker malformation Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology Low-set ears Ventricular septal defect Abnormality of the pinna Microcephaly Cryptorchidism Intrauterine growth retardation Cataract Flexion contracture Generalized hypotonia Scoliosis Talipes equinovarus Ventriculomegaly Muscular dystrophy Pulmonary hypoplasia Seizures Abnormal facial shape Global developmental delay Growth delay Retrognathia Absent septum pellucidum Abnormality of the skeletal system Bifid uvula Hydronephrosis Encephalocele Hypospadias Renal agenesis Microcornea Camptodactyly Hypertelorism Cleft lip Multicystic kidney dysplasia Abnormal lung lobation Tracheal stenosis High palate Short neck Kyphosis Glaucoma Macrocephaly Arrhinencephaly Hearing impairment Intellectual disability Epicanthus Submucous cleft hard palate Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Talipes Short palpebral fissure Camptodactyly of finger Abnormal cardiac septum morphology Abnormal vertebral morphology Failure to thrive Abnormal cortical gyration Blepharophimosis Postnatal growth retardation Spina bifida Posteriorly rotated ears Bifid uterus Everted lower lip vermilion Hypoplasia of the corpus callosum Depressed nasal bridge Anteverted nares Ichthyosis High, narrow palate Kyphoscoliosis Abnormality of the cerebellar vermis Renal hypoplasia Holoprosencephaly Inguinal hernia Downslanted palpebral fissures Edema Postaxial polydactyly Abnormality of the kidney Polydactyly Ptosis Short stature Abnormal form of the vertebral bodies Aplasia/Hypoplasia involving the skeletal musculature Clinodactyly of the 5th finger Abnormal heart morphology Prominent occiput Aplasia/Hypoplasia of the corpus callosum Wide anterior fontanel Thick lower lip vermilion Interphalangeal joint contracture of finger Frontal bossing Muscular hypotonia Hemivertebrae Cerebellar vermis hypoplasia Anal atresia Ambiguous genitalia Depressed nasal ridge Feeding difficulties Skeletal muscle atrophy Joint contracture of the hand Lissencephaly Sensorineural hearing impairment Clinodactyly Hypoplasia of the brainstem Abnormality of the fallopian tube Occipital encephalocele Optic atrophy Narrow mouth Sloping forehead Oral cleft Rhizomelia Postaxial hand polydactyly Premature birth Arthrogryposis multiplex congenita Micromelia Low-set, posteriorly rotated ears Renal hypoplasia/aplasia Limb undergrowth Anophthalmia Anencephaly Deeply set eye Abnormality of limbs Muscle cramps Ectodermal dysplasia Ablepharon Thick vermilion border Strabismus Type III lissencephaly Yellow subcutaneous tissue covered by thin, scaly skin Areflexia Hyperactivity Severe short stature Motor delay Polymicrogyria Intellectual disability, severe Abnormality of the skin Long philtrum Pectus excavatum Cleft upper lip Toe syndactyly Myopathy Generalized edema Cerebral calcification Opisthotonus Abnormality of nervous system morphology Abnormal eyelid morphology Broad foot Absent eyelashes Hydranencephaly Abnormality of the mouth Calcaneovalgus deformity Severe intrauterine growth retardation Abnormality of the philtrum Abnormal eyelash morphology Osteomalacia Transposition of the great arteries Abnormal nasolacrimal system morphology External genital hypoplasia Abnormality of neuronal migration Decreased fetal movement Small placenta Pachygyria Abnormality of the hair Lack of skin elasticity Pterygium Short umbilical cord Patent foramen ovale Rickets Bilateral cryptorchidism Choroid plexus cyst Ectropion Large hands Macrogyria Radial deviation of finger Rocker bottom foot Trismus Distal arthrogryposis Micropenis Ascites Microretrognathia Osteolysis Finger clinodactyly Cafe-au-lait spot Coarctation of aorta Growth hormone deficiency Triangular face Wide nose Sleep apnea Bulbous nose Long face Abnormality of skin pigmentation Dolichocephaly Small for gestational age Corneal opacity Craniosynostosis Abnormality of the eye Aortic regurgitation Abnormality of vision High forehead Abnormality of the upper limb Premature chromatid separation Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Duodenal atresia Myelodysplasia Abnormality of the skull Acute lymphoblastic leukemia Abnormality of immune system physiology Multiple cafe-au-lait spots Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Nephroblastoma Apnea Hypothyroidism Aggressive behavior Situs inversus totalis Metatarsus adductus Mask-like facies Myotonia Congenital contracture Radioulnar synostosis Pyloric stenosis Abnormality of the urinary system Abnormality of the face Hydroureter Renal dysplasia Peripheral demyelination Specific learning disability Arachnodactyly Pectus carinatum Attention deficit hyperactivity disorder Joint stiffness Respiratory tract infection Dextrocardia Decreased muscle mass Delayed skeletal maturation Zollinger-Ellison syndrome Short nose Intellectual disability, mild Atrial septal defect Cognitive impairment Neoplasm Abnormal anatomic location of the heart Fixed facial expression Inferior vermis hypoplasia Abnormality of the penis Abnormality of the sternum Congenital ptosis Limb joint contracture Epispadias Primitive reflex Abnormality of the upper urinary tract Colpocephaly Wide mouth Restlessness Finger syndactyly Alopecia Osteopenia Prominent forehead Global brain atrophy Narrow forehead Brain atrophy Sepsis Muscular hypotonia of the trunk Gastroesophageal reflux Cerebral atrophy Hyperactive deep tendon reflexes Wide nasal bridge Hyperreflexia Visual impairment Aplasia/Hypoplasia involving the pelvis Tetraamelia Aplasia/Hypoplasia involving the nose Septo-optic dysplasia Poor eye contact Prominent metopic ridge Aplasia/Hypoplasia of the nipples Upper limb undergrowth Bifid nose Complete atrioventricular canal defect Preaxial foot polydactyly Bilateral cleft lip and palate Bilateral cleft lip Broad neck Median cleft lip Widow's peak Preaxial hand polydactyly Preaxial polydactyly Heterotopia Omphalocele Hand clenching Interrupted aortic arch Delayed CNS myelination Abnormally ossified vertebrae Vaginal atresia Accessory spleen Elevated serum creatine phosphokinase Retinal degeneration Poor speech Severe global developmental delay Coloboma Neonatal hypotonia Reduced visual acuity Myopia High myopia Muscle weakness Gingival cleft Tracheal atresia Abnormality of the sense of smell Unilateral cleft lip Abnormality of the respiratory system Laryngomalacia Bilateral sensorineural hearing impairment Progressive microcephaly Abnormality of the larynx Agyria Missing ribs Aplasia/Hypoplasia of the lungs Abnormality of the ribs Iris coloboma Microtia Cortical cataract Type II lissencephaly Respiratory insufficiency due to muscle weakness Retinal coloboma Abnormally large globe Hypoventilation Congenital muscular dystrophy CNS hypomyelination Poor head control Arnold-Chiari malformation Abnormal vagina morphology Severe hydrocephalus Macrotia Bilateral talipes equinovarus Concave nasal ridge Patellar dislocation Foot polydactyly Epiphyseal stippling Congenital ichthyosiform erythroderma Aplasia/Hypoplasia of the skin Erythroderma Abnormality of hair texture Abnormality of the thorax Scaling skin Coarse hair Abnormality of pelvic girdle bone morphology Sparse eyelashes Abnormality of the fingernails Joint dislocation Dry hair Butterfly vertebrae Abnormality of epiphysis morphology Tarsal stippling Proptosis Hypogonadism Osteoporosis Patent ductus arteriosus Syndactyly Stippled calcification in carpal bones Elevated 8(9)-cholestenol Scarring alopecia of scalp Elevated 8-dehydrocholesterol Punctate vertebral calcifications Tracheal calcification Hyperkeratosis with erythema Vertebral wedging Patchy alopecia Hemiatrophy Sparse and thin eyebrow Hip dysplasia Laryngeal hypoplasia Hip dislocation Esophageal atresia Abnormality of the vertebral column Absent thumb Tracheoesophageal fistula Hypoplasia of the radius Abnormality of the outer ear Respiratory failure Abnormality of the optic nerve Respiratory insufficiency Anemia Proximal tibial hypoplasia Cleft in skull base Adrenal gland dysgenesis Agenesis of the diaphragm Duplication of phalanx of hallux Single umbilical artery Aqueductal stenosis Esotropia Depressivity Flat face Sparse hair Erythema Intellectual disability, moderate Abnormality of the nervous system Skeletal dysplasia Hyperkeratosis Midface retrusion Anotia Malar flattening Abnormality of the dentition Nystagmus Microtia, third degree Absence of the sacrum Radial club hand Femoral hernia Vaginal neoplasm



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

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