Cleft palate, and Downturned corners of mouth

Diseases related with Cleft palate and Downturned corners of mouth

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Medium match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

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Other less relevant matches:

Medium match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Medium 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

Medium match HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME


Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased 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 HPMRS and MCAHS (see, e.g., {614080}), 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 under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

Medium match 3MC SYNDROME 2; 3MC2


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 2; 3MC2 Is also known as ptosis of eyelids with diastasis recti and hip dysplasia|oculo-skeletal-abdominal syndrome|carnevale syndrome, formerly|osa syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 2; 3MC2

Medium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

Medium match CORNELIA DE LANGE SYNDROME 5; CDLS5


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 5; CDLS5

Top 5 symptoms//phenotypes associated to Cleft palate and Downturned corners of mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Downturned corners of mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Ptosis

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Feeding difficulties Telecanthus Highly arched eyebrow Cleft lip Long philtrum Thin upper lip vermilion Ventricular septal defect Anteverted nares Wide nasal bridge Brachydactyly Cognitive impairment Muscular hypotonia of the trunk Absent speech Intellectual disability, severe Poor speech Broad nasal tip Depressed nasal bridge Short nose Prominent nasal bridge Severe global developmental delay Small hand Short neck Midface retrusion Clinodactyly Abnormality of the dentition Gastroesophageal reflux Long eyelashes Postnatal growth retardation High palate Ventriculomegaly Brachycephaly Myopia Scoliosis Strabismus Delayed speech and language development Small for gestational age Thin vermilion border Wide nose Spasticity Hypoplasia of the corpus callosum Widely spaced teeth

Rare Symptoms - Less than 30% cases


Open mouth Limited elbow movement Short 5th finger Cutis marmorata Proximal placement of thumb Low anterior hairline Short foot Narrow forehead Motor delay Hirsutism Deeply set eye Tented upper lip vermilion Bulbous nose Muscular hypotonia Synophrys Dystonia Abnormal cardiac septum morphology Craniosynostosis Clinodactyly of the 5th finger Tapered finger Hypogonadism Obesity Tetraparesis Hydronephrosis Posteriorly rotated ears Abnormal heart morphology Atrial septal defect Optic atrophy Plagiocephaly Depressed nasal tip Spastic tetraparesis Progressive microcephaly Sloping forehead Hypospadias Failure to thrive Inability to walk Cleft upper lip Aggressive behavior Short distal phalanx of finger Small nail Short toe Micropenis Long palpebral fissure Blepharophimosis Long face Feeding difficulties in infancy Patent foramen ovale Short palpebral fissure Upslanted palpebral fissure Anteriorly placed anus Kyphosis Macrocephaly Microretrognathia Smooth philtrum Protruding ear Short philtrum Conductive hearing impairment Round face Downslanted palpebral fissures Patent ductus arteriosus Nevus Autistic behavior Abnormality of the liver Abnormality of the nervous system Oral cleft Anal atresia Toe syndactyly Microtia Retrognathia Sparse scalp hair Aganglionic megacolon Abnormal hair whorl Infantile muscular hypotonia Elevated alkaline phosphatase Coarse facial features Constipation Mandibular prognathia Neonatal respiratory distress Nevus flammeus Abnormal lung morphology Truncal obesity Limited elbow extension Delayed cranial suture closure Cerebral visual impairment Muscle stiffness Laryngomalacia Preauricular pit Decreased testicular size Chronic lung disease Prominent supraorbital ridges Lacrimal duct stenosis Sensorineural hearing impairment Hydrocephalus Malar flattening Gynecomastia Cupped ear Hemiclonic seizures Bilateral conductive hearing impairment Capillary malformation Ectropion Intrauterine growth retardation Omphalocele Partial abdominal muscle agenesis Abnormal vertebral morphology Prominence of the premaxilla Horseshoe kidney Torticollis Radioulnar synostosis Supernumerary nipple Cerebral atrophy Abnormality of the vertebral column Broad foot Bilateral cleft lip Caudal appendage Epicanthus inversus Esodeviation Diastasis recti Bilateral cleft lip and palate Broad philtrum Joint hypermobility Hip dislocation Right ventricular hypertrophy Shortening of all distal phalanges of the fingers Abnormally large globe Hypoplasia of the musculature Central hypotonia Thickened helices Profound global developmental delay Delayed ossification of carpal bones Cortical gyral simplification Wide anterior fontanel Hernia Myoclonus Ventricular hypertrophy Oligohydramnios Depressivity Vesicoureteral reflux Umbilical hernia Delayed myelination Hypoplasia of the maxilla Broad forehead Intellectual disability, moderate Intestinal malrotation Prominent metopic ridge Low-set, posteriorly rotated ears Kyphoscoliosis Fever Skeletal muscle atrophy Abnormality of the skeletal system Respiratory insufficiency Myopathy Pectus excavatum Areflexia Hyporeflexia Proximal muscle weakness Neurological speech impairment Facial palsy Arthrogryposis multiplex congenita Abnormality of the foot Talipes Generalized muscle weakness Congenital contracture Gowers sign Myopathic facies Ankle contracture Flexion contracture Muscle weakness Restrictive deficit on pulmonary function testing Proptosis Prominent nasal tip Long upper lip Partial agenesis of the corpus callosum Long nose Frontal bossing Absence seizures Wide intermamillary distance Bifid uvula Dental malocclusion Hypoplastic right heart Webbed neck Blue sclerae Broad thumb Short phalanx of finger Gingival overgrowth Tricuspid regurgitation Mesomelia Agenesis of permanent teeth Pulmonary artery atresia Malignant hyperthermia Multiple skeletal anomalies Neonatal hypotonia Pancreatitis Delayed puberty Lactic acidosis Thick vermilion border Bruxism Full cheeks Growth hormone deficiency Hypoplasia of penis Lower limb spasticity Drooling Hypoglycemia Agitation External genital hypoplasia Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Visual impairment Respiratory distress Attention deficit hyperactivity disorder EEG abnormality Abnormality of the pinna Nystagmus Behavioral abnormality Prominent forehead Agenesis of corpus callosum Pulmonic stenosis Thick eyebrow Hypertrichosis Finger clinodactyly Thick hair Hyperreflexia Difficulty walking Talipes equinovarus Hypertonia Babinski sign Diabetes mellitus Hyperactivity Gait ataxia Autism Acidosis Macrotia Happy demeanor



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