Micrognathia, and Renal cyst

Diseases related with Micrognathia and Renal cyst

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Micrognathia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME 13; MKS13

MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).

MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME Is also known as hydranencephaly with renal aplasia-dysplasia|march syndrome

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Other less relevant matches:

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

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

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

Low match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).

GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS Is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

Top 5 symptoms//phenotypes associated to Micrognathia and Renal cyst

Symptoms // Phenotype % cases
Oligohydramnios Uncommon - Between 30% and 50% cases
Pulmonary hypoplasia Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Macrotia Uncommon - Between 30% and 50% cases
Multicystic kidney dysplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Renal cyst. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microretrognathia Microcephaly Respiratory failure Cleft palate Hypertelorism Global developmental delay Low-set ears Ambiguous genitalia Polydactyly Flexion contracture Cryptorchidism Polycystic kidney dysplasia Encephalocele Microphthalmia Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases

Periportal fibrosis Abnormality of cardiovascular system morphology Pancreatic cysts Low-set, posteriorly rotated ears Hepatic fibrosis Congenital hepatic fibrosis Anal atresia Abnormal lung morphology Abnormality of the kidney Depressed nasal ridge Chronic lung disease Short stature Intellectual disability Short neck Bowing of the long bones Underdeveloped nasal alae Dandy-Walker malformation Skeletal dysplasia Hernia Convex nasal ridge Congenital diaphragmatic hernia Abnormal lung lobation Cataract Optic atrophy Hydrocephalus Microcornea Polyhydramnios Sloping forehead Talipes Potter facies Molar tooth sign on MRI Occipital encephalocele Atrial septal defect Talipes equinovarus Respiratory distress Respiratory insufficiency Renal hypoplasia Renal dysplasia Abnormal chorioretinal morphology Coarse facial features Telecanthus Hydronephrosis Midface retrusion Patent ductus arteriosus Postaxial polydactyly Cleft lip Narrow chest Retrognathia Prominent nasal bridge Prominent nose Brachycephaly Limb undergrowth Posteriorly rotated ears Cerebellar vermis hypoplasia Aplasia/Hypoplasia involving the pelvis Aplasia/Hypoplasia involving the nose Tetraamelia Tracheal stenosis Ulnar deviation of the hand Abnormality of the ribs Double outlet right ventricle Aniridia Long palpebral fissure Aplasia/Hypoplasia of the lungs Missing ribs Abnormality of the larynx Smooth philtrum Flared metaphysis Vaginal atresia Aplasia/Hypoplasia of the nipples Abnormally ossified vertebrae Septo-optic dysplasia Multiple joint contractures Abnormal heart morphology Short long bone Omphalocele Spontaneous abortion Rhizomelia Male pseudohermaphroditism Cystic liver disease Lobar holoprosencephaly Situs inversus totalis Aplasia/Hypoplasia of the corpus callosum True hermaphroditism Anophthalmia Preaxial hand polydactyly Anencephaly Postaxial foot polydactyly Full cheeks Sclerocornea Asplenia Furrowed tongue Ureteral duplication Accessory spleen Pancreatic fibrosis Aplasia/Hypoplasia of the tongue Aplasia/Hypoplasia of the iris Postaxial hand polydactyly Abnormal facial shape Short ribs Thoracic dysplasia Urethral atresia Relative macrocephaly Preaxial polydactyly Thoracic hypoplasia Thrombocytopenia Natal tooth Bell-shaped thorax Flat acetabular roof Hypoplastic pelvis Unicoronal synostosis Bifid tongue Anteverted nares Abnormality of the skeletal system Cleft soft palate Horizontal ribs Lobulated tongue Epicanthus Squared iliac bones Hypoplastic facial bones Iris coloboma Long face Oral cleft Cholestasis Splenomegaly Renal insufficiency Dilatation Hepatosplenomegaly Abnormality of the liver Scarring Stage 5 chronic kidney disease Dehydration Renal hypoplasia/aplasia Hepatomegaly Chronic kidney disease Portal hypertension Enlarged kidney Multiple renal cysts Atelectasis Esophageal varix Cholangitis Hepatic cysts Tubulointerstitial fibrosis Congestive heart failure Hypertension Portal fibrosis Single transverse palmar crease Ataxia Retinopathy Apraxia Oculomotor apraxia Syndactyly Clinodactyly Clinodactyly of the 5th finger Arthrogryposis multiplex congenita Toe syndactyly Renal agenesis Ureteral agenesis Finger clinodactyly Hypoplasia of the brainstem 2-3 toe syndactyly Cystic hygroma Broad palm Redundant neck skin Hydranencephaly Narrow nasal ridge Limb joint contracture Biliary tract abnormality Hypersplenism Microtia Hypertrichosis Intrauterine growth retardation Ventriculomegaly Immunodeficiency Recurrent respiratory infections Protruding ear Abnormal cardiac septum morphology Small for gestational age Asthma Decreased fetal movement Pachygyria Growth delay Recurrent urinary tract infections Narrow face Clitoral hypertrophy Cortical gyral simplification Scaphocephaly Recurrent lower respiratory tract infections Pulmonary artery hypoplasia Agenesis of corpus callosum Narrow mouth Failure to thrive Metaphyseal chondrodysplasia Hematemesis Blindness Hypoplasia of the ear cartilage Azotemia Absence of renal corticomedullary differentiation Feeding difficulties Delayed speech and language development Brachydactyly Macrocephaly Downslanted palpebral fissures Frontal bossing Malar flattening Congenital blindness Rod-cone dystrophy Intellectual disability, moderate Craniosynostosis Nyctalopia Retinal degeneration Short distal phalanx of finger Short metacarpal Small nail Horseshoe kidney Large fleshy ears


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