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.
Low match 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 syndromeRelated symptoms:
- Flexion contracture
- Talipes equinovarus
- Clinodactyly of the 5th finger
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, formerlyRelated symptoms:
- Ventricular septal defect
- Respiratory insufficiency
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 pigmentosaRelated symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Low-set ears
More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME
Low match 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 phocomeliaRelated symptoms:
- Optic atrophy
More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME
- Cleft palate
- Respiratory insufficiency
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 syndromeRelated symptoms:
- Cleft palate
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 brachymeliaRelated symptoms:
- Abnormal facial shape
- Cleft palate
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% casesMicroretrognathia 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% casesPeriportal 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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