High palate, and Intrauterine growth retardation

Diseases related with High palate and Intrauterine growth retardation

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

Top matches:

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Other less relevant matches:

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

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Intrauterine growth retardation

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Intrauterine growth retardation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Generalized hypotonia Seizures Feeding difficulties Epicanthus Hypertelorism Short neck Abnormal facial shape Scoliosis Low-set ears Delayed speech and language development Depressed nasal bridge Ventricular septal defect Small hand Abnormality of the pinna Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Wide mouth Long philtrum Abnormality of cardiovascular system morphology Hearing impairment Pointed chin Motor delay 2-3 toe syndactyly Hypoplasia of the corpus callosum Delayed myelination Strabismus Clinodactyly Postnatal growth retardation Smooth philtrum Ptosis Posteriorly rotated ears Wide nasal bridge Cryptorchidism Visual impairment Cleft palate Cerebellar hypoplasia Spasticity Narrow forehead Sloping forehead Nystagmus Syndactyly Decreased fetal movement Coloboma Ichthyosis Abnormality of skin pigmentation Single transverse palmar crease Bilateral sensorineural hearing impairment Tetralogy of Fallot Congestive heart failure Cupped ear Cutis marmorata Chromosome breakage Optic nerve coloboma Small face Premature chromatid separation Hypoplasia of the cochlea Proptosis Short nose Nephrotic syndrome Sensorineural hearing impairment Bradykinesia Hypertonia Encephalopathy Acidosis Muscular hypotonia of the trunk Lactic acidosis Metabolic acidosis Rocker bottom foot Increased serum lactate Cholestasis Depressed nasal ridge Decreased liver function Global brain atrophy Hypokinesia Poor eye contact Progressive encephalopathy Increased CSF lactate Fulminant hepatic failure Basal ganglia cysts Edema Pes planus Brachycephaly Broad forehead Behavioral abnormality Dystonia Malar flattening Absent speech Hypothyroidism Anxiety Joint laxity Craniosynostosis Abnormality of the cerebral white matter Ventriculomegaly Facial asymmetry Gliosis Waddling gait Thick lower lip vermilion Sparse eyebrow Long fingers Esophageal atresia Periorbital fullness Lacrimal duct stenosis Abnormality of the dentition Abnormality of the skeletal system Cardiomyopathy Decreased body weight Thin upper lip vermilion Telecanthus Abnormal cardiac septum morphology Synophrys High, narrow palate Triangular face Broad nasal tip Broad-based gait Hemivertebrae Tremor Short chin Sacral dimple Severe intrauterine growth retardation Deep palmar crease Macrodontia Malar rash Nevus flammeus of the forehead Decreased head circumference Cognitive impairment Vomiting Hyperreflexia Abnormal cortical gyration Omphalocele Dysmetria Talipes equinovarus Proteinuria Skeletal dysplasia Narrow chest Pulmonary hypoplasia Oligohydramnios Cardiomegaly Hydrops fetalis Cat cry Narrow palate Torticollis Adducted thumb Akinesia Femoral bowing Thoracic scoliosis Fetal akinesia sequence Overlapping fingers Flexion contracture Abnormality of bone mineral density Hypoplasia of the thymus Low-set, posteriorly rotated ears Focal segmental glomerulosclerosis Minimal change glomerulonephritis Muscular hypotonia Esotropia Polymicrogyria Intellectual disability, severe Stage 5 chronic kidney disease Inguinal hernia Finger syndactyly High pitched voice Severe global developmental delay Joint hyperflexibility Arachnodactyly Recurrent fractures Round face Preauricular skin tag Microretrognathia Abnormality of the voice Broad ribs Lethal skeletal dysplasia Respiratory insufficiency Rhizomelia Myopia Hypospadias Micropenis Gait ataxia Autism Retrognathia Astigmatism Hypotelorism Coxa valga Failure to thrive Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening Scaphocephaly Obstructive sleep apnea Broad femoral neck Hepatomegaly Glomerulosclerosis Cataract Lacrimal duct aplasia Stiff neck Thick eyebrow Overriding aorta Cerebral atrophy Anteverted nares Abnormal heart morphology Delayed skeletal maturation Coarse facial features Cerebellar atrophy Sparse hair Hirsutism Aplasia/Hypoplasia of the distal phalanges of the hand Wide nose Thick vermilion border Macroglossia Dandy-Walker malformation Hypertrichosis Sparse scalp hair Long eyelashes Abnormal corpus callosum morphology Delayed eruption of permanent teeth Mild intrauterine growth retardation


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