High palate, and Oligohydramnios

Diseases related with High palate and Oligohydramnios

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

NEK9-RELATED LETHAL SKELETAL DYSPLASIA Is also known as lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • High palate
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEK9-RELATED LETHAL SKELETAL DYSPLASIA

Other less relevant matches:

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

High match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Oligohydramnios

Symptoms // Phenotype % cases
Retrognathia Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Oligohydramnios. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Short stature Growth delay Hypertelorism Renal hypoplasia Depressed nasal bridge Abnormality of the pinna Flexion contracture Joint laxity Pulmonary hypoplasia Pectus excavatum Hydrocephalus Proptosis Abnormal facial shape Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Patent foramen ovale Multicystic kidney dysplasia Neonatal respiratory distress Gastroesophageal reflux Prominent forehead Myopia Short neck Long philtrum Cardiomegaly Dilatation Elevated hepatic transaminase Renal hypoplasia/aplasia Ventricular septal defect Failure to thrive Hearing impairment Inguinal hernia Hernia Cerebral atrophy Renal insufficiency Feeding difficulties Seizures Cryptorchidism Recurrent urinary tract infections Hypertension Aortic root aneurysm Bilateral sensorineural hearing impairment Aortic aneurysm Cutis laxa Hydronephrosis Arachnodactyly Fractures of the long bones Craniosynostosis Microretrognathia Dysphagia High forehead Flat face Patent ductus arteriosus Highly arched eyebrow Recurrent fractures Microtia Intellectual disability Osteopenia Midface retrusion Frontal bossing Vesicoureteral reflux Macrocephaly Arthrogryposis multiplex congenita Premature birth Long face Paralysis Bifid uvula Abnormality of the kidney Intestinal malrotation Renal agenesis Microdontia Depressed nasal ridge Narrow face Abnormality of the dentition Atrial septal defect Atrial fibrillation Renal dysplasia Preauricular skin tag Anteverted nares Facial palsy Congenital hip dislocation Pulmonary artery dilatation Generalized arterial tortuosity Pulmonary artery aneurysm Short nose Brachycephaly Delayed skeletal maturation Anotia Abnormality of the outer ear Deep philtrum Epiphyseal dysplasia Atresia of the external auditory canal Metaphyseal dysplasia Aplasia cutis congenita Hypoplasia of the odontoid process Atopic dermatitis Bifid nasal tip Hypodontia Coronal cleft vertebrae Anal atresia Vertebral clefting Agenesis of corpus callosum Dysplastic corpus callosum Hypoplastic helices Synophrys Dysplasia of the femoral head Sparse hair Sensorineural hearing impairment Neonatal hypotonia Cleft palate Inflammatory abnormality of the skin Microphthalmia Severe short stature Conductive hearing impairment Overlapping toe Overbite Polycystic kidney dysplasia Small nail Focal impaired awareness seizure Schizophrenia Horizontal nystagmus Sparse and thin eyebrow Large fontanelles Hypertrichosis Short foot Unilateral renal agenesis Short palm Stage 5 chronic kidney disease Facial asymmetry Hypermetropia Nail dystrophy Protruding ear Mandibular prognathia Language impairment Long fingers Diabetes mellitus Hyperconvex nail Pancreatic aplasia Pica Ureteral atresia Aplasia of the vagina Hypoplasia of the bladder Abnormality of upper lip Ureterocele Subcortical cerebral atrophy Shawl scrotum Urethral stenosis Hyperechogenic kidneys Long toe Aplasia of the uterus Maturity-onset diabetes of the young Ovarian cyst Upper limb undergrowth Autism Malar flattening Cupped ear Ureteropelvic junction obstruction Arteria lusoria Branchial cyst Body odor Abnormality of the middle ear ossicles Bilateral renal agenesis Multiple joint dislocation Lacrimal duct stenosis Lacrimation abnormality Renal malrotation Stenosis of the external auditory canal External ear malformation Mixed hearing impairment Premature graying of hair Ectopic kidney Preauricular pit Epiphora Branchial fistula Cochlear malformation Behavioral abnormality Incomplete partition of the cochlea type II Epicanthus Delayed speech and language development Scoliosis Gustatory lacrimation Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Abnormal lacrimal duct morphology Hypoplasia of the cochlea Abnormality of the cerebrum Abnormality of the renal collecting system Lacrimal duct aplasia Euthyroid goiter Unilateral renal hypoplasia Bilateral renal dysplasia Renal steatosis Prominence of the premaxilla Bile duct proliferation Intussusception Torticollis Overlapping fingers Fetal akinesia sequence Thoracic scoliosis Femoral bowing Akinesia Adducted thumb Narrow palate Hypoplasia of the thymus Hydrops fetalis Omphalocele Narrow chest Skeletal dysplasia Talipes equinovarus Multiple prenatal fractures Broad ribs Lethal skeletal dysplasia Muscle fiber atrophy Abnormality of the face Abnormality of earlobe Hypoplastic fingernail Shallow orbits Prominent occiput Precocious puberty Gingival overgrowth Dehydration Stiff neck Prominent nose Generalized myoclonic seizures Macroglossia Umbilical hernia Hepatomegaly Overriding aorta Diaphragmatic eventration Secundum atrial septal defect Small anterior fontanelle Reduced bone mineral density Lambdoidal craniosynostosis Decreased skull ossification Coronal craniosynostosis Turricephaly Thin ribs High pitched voice Wormian bones Muscle weakness Blue sclerae Triangular face Platyspondyly Kyphosis Ventriculomegaly Motor delay Narrow iliac wings Peripheral neuropathy Axonal loss Decreased fetal movement Generalized amyotrophy Increased variability in muscle fiber diameter Spinal muscular atrophy Congenital contracture Severe muscular hypotonia Hypohidrosis Peripheral axonal neuropathy Skeletal muscle atrophy Abnormal cardiac septum morphology Narrow mouth Respiratory failure Areflexia Congestive heart failure Cardiomyopathy Respiratory distress Abdominal wall defect Neonatal insulin-dependent diabetes mellitus Arterial tortuosity Rickets Microcephaly Small scrotum Vitamin A deficiency Anasarca Vitamin D deficiency Interstitial pulmonary abnormality Portal hypertension Scarring Hypoalbuminemia Tachypnea Hypocalcemia Decreased liver function Abnormal lung morphology Cholestasis Low-set ears Joint hypermobility Ascites Emphysema Biventricular hypertrophy Narrow naris Pulmonary insufficiency Arterial stenosis Abnormality of the vasculature Soft skin Narrow palpebral fissure Bulbous nose Joint dislocation Spina bifida Bradycardia Congenital diaphragmatic hernia Overgrowth Convex nasal ridge Pancytopenia Hepatic steatosis Labial hypertrophy Tall stature Scaphocephaly Reduced subcutaneous adipose tissue Ectopia lentis Lipodystrophy Relative macrocephaly Increased body weight High myopia Narrow nose Mitral valve prolapse High, narrow palate Bruising susceptibility Prominent nasal bridge Pes planus Abnormality of the placenta Severe intrauterine growth retardation Progeroid facial appearance Cirrhosis Recurrent infections Abnormality of eye movement Cough Abnormality of the liver Abnormality of the eye Deeply set eye Hypoglycemia Vomiting Entropion Respiratory insufficiency Anemia Prominent scalp veins Narrow palm Dural ectasia Pes valgus Hyperextensibility of the finger joints Unicornuate uterus


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Parkinsonism, related diseases and genetic alterations Fever and Polyneuropathy, related diseases and genetic alterations Lymphoma and Hypertrichosis, related diseases and genetic alterations