Abnormal facial shape, and Oligohydramnios

Diseases related with Abnormal facial shape and Oligohydramnios

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Oligohydramnios that can help you solving undiagnosed cases.


Top matches:

Medium match POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2


Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii|apkd2

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

Medium match COLE-CARPENTER SYNDROME 2; CLCRP2


Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Medium match MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME


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

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Other less relevant matches:

Medium match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Medium match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


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

Medium match NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA


Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA Is also known as amc, neurogenic type

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA

Medium match NPHP3-RELATED MECKEL-LIKE SYNDROME


NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

Medium match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Medium match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Medium match CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3


Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Oligohydramnios

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Renal cyst Uncommon - Between 30% and 50% cases
Pulmonary hypoplasia Uncommon - Between 30% and 50% cases
Potter facies Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Oligohydramnios. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the kidney Stage 5 chronic kidney disease Triangular face Retrognathia Atrial septal defect Growth delay Dilatation Hepatosplenomegaly Low-set ears Macrocephaly Hepatic fibrosis Cutis laxa Craniosynostosis Renal dysplasia Hepatic cysts Intrauterine growth retardation Polycystic kidney dysplasia Multicystic kidney dysplasia Situs inversus totalis Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases


Premature skin wrinkling Renal hypoplasia Renal agenesis Inguinal hernia Talipes Abnormality of cardiovascular system morphology Depressed nasal ridge Unilateral renal agenesis Hip dislocation Splenomegaly Global developmental delay Micrognathia Hepatomegaly Ventricular septal defect Respiratory insufficiency Polydactyly Cholestasis Portal hypertension Congenital hepatic fibrosis Pancreatic cysts Prominent forehead Renal insufficiency Scoliosis Hernia Failure to thrive Reduced subcutaneous adipose tissue Patent ductus arteriosus Osteopenia Multiple glomerular cysts Midface retrusion Hydrocephalus Flexion contracture Wormian bones Downslanted palpebral fissures Pectus excavatum Dextrocardia Proptosis Respiratory failure Postnatal growth retardation Frontal bossing Facial asymmetry Microretrognathia Hypertelorism Increased serum bile acid concentration Bruising susceptibility Arachnodactyly Prominent nasal bridge Adducted thumb Tall stature High, narrow palate Premature birth Mitral valve prolapse High myopia Gastroesophageal reflux Increased body weight Aortic regurgitation Relative macrocephaly Spontaneous abortion Lipodystrophy Ectopia lentis Pes planus Myopia Brisk reflexes Abnormality of the pancreas Polyhydramnios High forehead Intestinal malrotation Dandy-Walker malformation Encephalocele Large fontanelles Aortic valve stenosis Occipital encephalocele Postaxial foot polydactyly Right ventricular hypertrophy Biliary cirrhosis Delayed cranial suture closure Bile duct proliferation Tapetoretinal degeneration Cystic renal dysplasia Meningoencephalocele Choroid plexus cyst Abnormal biliary tract morphology Pancreatic dysplasia Abnormal liver parenchyma morphology Dermal translucency Calcaneovalgus deformity Spinal canal stenosis Aortic aneurysm Congenital cataract Aortic root aneurysm Patent foramen ovale Coarctation of aorta Pancytopenia Autism Telangiectasia Feeding difficulties Wide anterior fontanel Decreased liver function Hydrops fetalis Deep philtrum Poor suck Clitoral hypertrophy Asthma Cataract Biventricular hypertrophy Muscular hypotonia Strabismus Microcephaly Micronodular cirrhosis Generalized hypotonia Intellectual disability Functional respiratory abnormality Abnormality of glutamine metabolism Infra-orbital crease Protruding ear Abnormal bleeding Thin skin Prominent scalp veins Scaphocephaly Abnormality of the clitoris Severe intrauterine growth retardation Narrow nose Corneal opacity Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Dural ectasia Narrow palm Broad forehead Thin vermilion border Anemia Depressed nasal bridge Edema Thrombocytopenia Hydronephrosis Wide mouth Short philtrum Autistic behavior Small for gestational age Synophrys Hypertonia Cirrhosis Azotemia Abnormality of mesentery morphology Cryptorchidism Finger clinodactyly Hypoplasia of the brainstem 2-3 toe syndactyly Cystic hygroma Broad palm Redundant neck skin Hydranencephaly Narrow nasal ridge Limb joint contracture Ureteral agenesis Cleft palate Epicanthus Toe syndactyly Proteinuria Falls Primary amenorrhea Abnormal intestine morphology Abnormality of the genitourinary system Tracheoesophageal fistula Non-midline cleft lip Breech presentation Bicornuate uterus Vaginal atresia Abnormality of female internal genitalia Single transverse palmar crease Cerebellar hypoplasia Abnormal sacrum morphology Recurrent fractures Hematuria Nephropathy Recurrent urinary tract infections Elevated serum creatinine Renal cortical cysts Short stature High palate Motor delay Ventriculomegaly Kyphosis Platyspondyly Blue sclerae Clinodactyly of the 5th finger Reduced bone mineral density High pitched voice Thin ribs Turricephaly Coronal craniosynostosis Decreased skull ossification Lambdoidal craniosynostosis Narrow iliac wings Fractures of the long bones Syndactyly Clinodactyly Bilateral renal agenesis Bilateral renal hypoplasia Abnormality of calvarial morphology Rocker bottom foot Absence of renal corticomedullary differentiation Skeletal muscle atrophy Myopathy Short nose Joint stiffness Camptodactyly of finger Micromelia Round face Hip dysplasia Elbow flexion contracture Congenital contracture Hemiplegia/hemiparesis Periportal fibrosis Multiple joint contractures Abnormality of the hip bone Aplasia/Hypoplasia of the radius Maternal diabetes Abnormality of the lower limb Abnormality of the upper limb Intestinal atresia Skin dimples Abnormality of the shoulder Gastric ulcer Congenital muscular torticollis Hypoplasia of the ear cartilage Hematemesis Nonketotic hypoglycemia Dehydration Urogenital fistula Urethral obstruction Sirenomelia Bilateral renal dysplasia Fetal polyuria Respiratory distress Congestive heart failure Macrotia Low-set, posteriorly rotated ears Abnormality of the liver Scarring Abnormal lung morphology Hypersplenism Renal hypoplasia/aplasia Chronic kidney disease Enlarged kidney Multiple renal cysts Chronic lung disease Atelectasis Esophageal varix Cholangitis Tubulointerstitial fibrosis Biliary tract abnormality Portal fibrosis Small foramen magnum



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