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:
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:
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
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
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
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
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
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
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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Spasticity and Split hand, related diseases and genetic alterations
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