Cleft palate, and Hyperreflexia

Diseases related with Cleft palate and Hyperreflexia

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


Top matches:

Low match MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH


Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Low match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Low match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

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Other less relevant matches:

Low match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME


Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Low match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Low match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Cleft palate and Hyperreflexia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Hyperreflexia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Spasticity

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Short neck

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, severe

Common Symptoms - More than 50% cases


Short nose

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Macrotia Talipes equinovarus Micropenis Absent speech Posteriorly rotated ears Anteverted nares Low-set ears Depressed nasal bridge Malar flattening Strabismus Epicanthus Short stature Coarse facial features Obesity Hypospadias Upslanted palpebral fissure Brachycephaly Wide mouth Thin upper lip vermilion Hypertonia Pneumonia Frontal bossing Hearing impairment Muscular hypotonia of the trunk Wide nasal bridge Drooling Delayed speech and language development Muscular hypotonia Gastroesophageal reflux Polyhydramnios Vesicoureteral reflux Cerebral atrophy Atrial septal defect Hyperactivity Cryptorchidism Nystagmus Hypoplasia of the corpus callosum Flexion contracture Autism Wide nose Scoliosis Poor speech Long face Downturned corners of mouth Tapered finger Tented upper lip vermilion Mild short stature Feeding difficulties Midface retrusion Prominent nasal bridge Generalized tonic-clonic seizures Decreased testicular size Brachydactyly Anxiety Narrow mouth Failure to thrive Sensorineural hearing impairment Widely spaced teeth Open mouth

Rare Symptoms - Less than 30% cases


Short distal phalanx of finger Respiratory failure Cupped ear Small nail Vomiting Dolichocephaly Constipation Respiratory tract infection Severe short stature Prominent occiput Ptosis Inguinal hernia Prominent nose Mandibular prognathia Clinodactyly Generalized myoclonic seizures Limb undergrowth Renal hypoplasia Paraplegia Cerebral cortical atrophy External genital hypoplasia Spastic paraplegia Broad thumb Intellectual disability, progressive Multicystic kidney dysplasia Camptodactyly Anal atresia Neonatal hypotonia Clinodactyly of the 5th finger Delayed myelination Narrow forehead Patent ductus arteriosus Hernia Behavioral abnormality Cerebellar atrophy U-Shaped upper lip vermilion Thin vermilion border Sparse hair Short philtrum Abnormality of the foot Abnormality of the rib cage Talipes Overfolded helix Arachnodactyly Bulbous nose Narrow face Deep philtrum Radial deviation of finger Thick eyebrow Skeletal dysplasia Coloboma Gingival overgrowth Progressive microcephaly Aggressive behavior Cleft lip Attention deficit hyperactivity disorder Epileptic encephalopathy Broad nasal tip Ventriculomegaly Inability to walk Thick vermilion border Pain Hypsarrhythmia Median cleft palate Pes cavus Diabetes mellitus Lower limb hypertonia Hypogonadism Abnormality of the dentition Postnatal growth retardation Ventricular septal defect Encephalopathy Cerebellar hypoplasia Postnatal microcephaly Increased body weight Infantile muscular hypotonia Scrotal hypoplasia Thick lower lip vermilion Muscle weakness Exotropia Abnormality of the genital system Macroglossia Motor delay Genu valgum Nail dystrophy Encephalitis Hypoplasia of penis Bilateral cryptorchidism Equinovarus deformity Intrauterine growth retardation Cataract Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Widely-spaced maxillary central incisors Slender finger Talipes calcaneovalgus Bilateral renal hypoplasia Short upper lip Asplenia Abnormality of the kidney Facial hypotonia Protruding tongue Abnormality of blood and blood-forming tissues Microtia Multinucleated giant chondrocytes in epiphyseal cartilage Telecanthus Hyperkinesis Progressive spasticity Tibial bowing Spondyloepiphyseal dysplasia Flat occiput Clubbing Oral-pharyngeal dysphagia Elbow dislocation Short metatarsal Disproportionate short-limb short stature Short humerus Abnormality of the outer ear Joint dislocation Absence seizures Recurrent pneumonia Muscle stiffness Meningitis Aspiration Sinusitis Atonic seizures Loss of speech Pes planus Laryngeal stenosis Kyphoscoliosis Delayed skeletal maturation Optic atrophy Distal tapering femur Blindness Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Aplasia/Hypoplasia of the ulna Bell-shaped thorax Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Skeletal muscle atrophy Abnormality of the nervous system Intellectual disability, mild Gliosis Tall stature Large fontanelles Inflammatory abnormality of the skin Generalized-onset seizure Overgrowth Microdontia Neuronal loss in central nervous system Webbed neck Sepsis Elevated alkaline phosphatase Hemolytic anemia Hepatic failure Cirrhosis Ichthyosis Abnormality of eye movement Stroke Developmental regression Apnea Cerebral visual impairment Redundant skin Retrognathia Breech presentation Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Developmental stagnation Scaling skin High anterior hairline Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Central hypotonia Absent septum pellucidum Infantile spasms Large for gestational age Abnormality of the eye Myoclonus Microphthalmia Hypoplasia of the maxilla Poor suck Cachexia Abnormality of the hair Situs inversus totalis Joint contracture of the hand Abnormality of the ribs Tetralogy of Fallot Triangular face High, narrow palate Failure to thrive in infancy Iris coloboma Hypermetropia Joint stiffness Protruding ear Recurrent urinary tract infections Alopecia Abnormal heart morphology Pectus excavatum Nasal speech Chorioretinal coloboma Hepatomegaly Anteverted ears Anemia Abnormal hair laboratory examination Decreased head circumference Narrow foot Round ear Phimosis Moderately short stature Macrodontia Broad columella Spastic diplegia Thin eyebrow Heterotaxy Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge High hypermetropia Rhizomelia Hyperlordosis Encephalocele Lower limb hyperreflexia Focal-onset seizure Recurrent otitis media Brain atrophy Short foot Foot dorsiflexor weakness Pulmonary hypoplasia Flat face Acute lymphoblastic leukemia Congenital diaphragmatic hernia Synophrys Abnormal cardiac septum morphology Abnormality of the pinna Hydronephrosis Upper limb undergrowth Short 4th metacarpal Abnormality of chromosome segregation Short 5th metacarpal Eczema Choreoathetosis Hyporeflexia Hydrocele testis Kyphosis Downslanted palpebral fissures Thrombocytopenia Prominent forehead Polydactyly Large fleshy ears Hoarse cry Vertical nystagmus Limb hypertonia Amblyopia Anal stenosis Cystic hygroma Umbilical hernia Leukemia Focal impaired awareness seizure Patent foramen ovale Abnormality of the urinary system Neutropenia Ectopic calcification Giant platelets Osteoporosis Large earlobe Severe global developmental delay Delayed puberty Lactic acidosis Tall chin Birth length less than 3rd percentile Abdominal obesity Male hypogonadism Depressed nasal tip Hypoglycemia Full cheeks Agitation Round face Growth hormone deficiency Pancreatitis Spastic tetraparesis Lower limb spasticity Sloping forehead Small for gestational age EEG abnormality Splenomegaly Hyperactive deep tendon reflexes Folate deficiency Hyposegmentation of neutrophil nuclei Tremor Facial capillary hemangioma Short 3rd metacarpal Myopia Thickened nuchal skin fold Scaphocephaly Broad palm Difficulty walking Short finger Babinski sign Recurrent upper respiratory tract infections Congenital hip dislocation Gait ataxia Acidosis Wide intermamillary distance Single transverse palmar crease Edema Hyperhidrosis Lumbar hyperlordosis Pes valgus Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Toe clinodactyly Happy demeanor Overbite Gait disturbance Excessive salivation Generalized osteoporosis Cleft soft palate Conical tooth Broad hallux phalanx Short columella Self-mutilation Narrow nose Narrow jaw Abnormality of the skeletal system Restlessness Tetraparesis Intellectual disability, moderate Otitis media Short metacarpal Premature birth Abdominal distention Nausea Narrow chest Autistic behavior Deeply set eye Respiratory distress Pallor Proptosis Weight loss Abdominal pain Recurrent respiratory infections Depressivity Recurrent infections Optic disc pallor Abnormality of the periventricular white matter Abnormality of digit Macrogyria Optic nerve hypoplasia Sleep disturbance Short palm Hypohidrosis Smooth philtrum Plagiocephaly Joint hyperflexibility Facial asymmetry Abnormality of the cerebral white matter Decreased body weight Broad forehead Abnormally large globe Overlapping fingers Dilated fourth ventricle Joint laxity Oval face Osteopenia High forehead Ectodermal dysplasia Dental malocclusion Long nose Long eyelashes Myopathic facies Bilateral talipes equinovarus Overlapping toe Abnormality of dental morphology Dermal atrophy Relative macrocephaly Oligodontia Microretrognathia Dental crowding Nail dysplasia Broad-based gait Thin skin Hemiparesis Short palpebral fissure Fine hair Intellectual disability, profound Convex nasal ridge Febrile seizures Abnormality of the pons



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