Cleft palate, and Poor speech

Diseases related with Cleft palate and Poor speech

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


Top matches:

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3


Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Medium match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR


CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR

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 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 2; CDLS2


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 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (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}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Medium match 22Q11.2 MICRODUPLICATION SYNDROME


The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Poor speech

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Feeding difficulties Intellectual disability, severe Downturned corners of mouth Ptosis Growth delay Hearing impairment Ventricular septal defect High palate Narrow forehead Highly arched eyebrow Thin upper lip vermilion Low-set ears Epicanthus Absent speech Broad nasal tip Gastroesophageal reflux Prominent nasal bridge Spasticity Smooth philtrum Muscular hypotonia Full cheeks Anteverted nares Abnormal cardiac septum morphology Atrial septal defect Synophrys Aggressive behavior Neonatal hypotonia Clinodactyly Hyperactivity Tented upper lip vermilion Intrauterine growth retardation Thick eyebrow Depressed nasal bridge Cryptorchidism Delayed speech and language development

Rare Symptoms - Less than 30% cases


Small hand Cognitive impairment Hirsutism Behavioral abnormality Myopia Long philtrum Short neck Brachycephaly Abnormality of the dentition Short foot Ventriculomegaly Long eyelashes Ventricular hypertrophy Optic atrophy Laryngomalacia Hypertelorism Failure to thrive Widely spaced teeth Spastic tetraparesis Progressive microcephaly Tetraparesis Wide nose Sloping forehead Thick vermilion border Severe global developmental delay Low anterior hairline Small for gestational age Attention deficit hyperactivity disorder Muscular hypotonia of the trunk EEG abnormality Autism Hypoplasia of the corpus callosum Scoliosis Strabismus Downslanted palpebral fissures Limited elbow movement Cutis marmorata Proximal placement of thumb Hydronephrosis Short 5th finger Cleft lip Wide nasal bridge Cerebral atrophy Abnormal heart morphology Short nose Sensorineural hearing impairment Abnormality of cardiovascular system morphology Upslanted palpebral fissure Babinski sign Motor delay Deeply set eye Acidosis Hypoglycemia Feeding difficulties in infancy Prominent forehead Urethral stenosis Wide anterior fontanel Small nail Velopharyngeal insufficiency Total anomalous pulmonary venous return Short toe Abnormality of the pharynx Anterior creases of earlobe Patent foramen ovale Interrupted aortic arch Cortical gyral simplification Long palpebral fissure Central hypotonia Right ventricular hypertrophy Heterotaxy Oligohydramnios Persistent left superior vena cava Vesicoureteral reflux Chronic lung disease Intestinal malrotation Abnormal lung morphology Cerebral visual impairment Muscle stiffness Microretrognathia Plagiocephaly Neonatal respiratory distress Preauricular pit Lacrimal duct stenosis Delayed myelination Subependymal cysts Myoclonus Aplasia/Hypoplasia of the thymus Intellectual disability, moderate Short distal phalanx of finger Displacement of the external urethral meatus Hemiclonic seizures Common atrium Hypoplasia of the maxilla Capillary malformation Dyslexia Anomalous pulmonary venous return Mitral regurgitation Specific learning disability Gastrointestinal hemorrhage Neurological speech impairment Abnormality of the pinna Apnea Anxiety High forehead Wide intermamillary distance Mitral valve prolapse Decreased body weight Tetralogy of Fallot Holoprosencephaly Aortic regurgitation Mandibular prognathia Prominent metopic ridge Enlarged cisterna magna Hemihypertrophy Semilobar holoprosencephaly Curly eyelashes Skull asymmetry Febrile seizures Depressed nasal ridge Abdominal situs inversus Stridor Abnormal hair whorl Midface retrusion Double outlet right ventricle Abnormality of immune system physiology Transposition of the great arteries Hypoplastic left heart Dilatation Recurrent respiratory infections Obsessive-compulsive behavior Hypertrophic cardiomyopathy Esotropia Nasal speech Abnormality of the genitourinary system Sleep apnea Narrow face Respiratory tract infection Sparse hair Situs inversus totalis Coloboma Stereotypy Craniosynostosis Hypospadias Low-set, posteriorly rotated ears Hypermetropia Oral-pharyngeal dysphagia Neonatal hypoglycemia Broad eyebrow Tented philtrum Submucous cleft soft palate Abnormality of the skeletal system Syndactyly Autistic behavior Broad forehead Cleft upper lip Dysphonia Oral cleft Coarctation of aorta Broad thumb Sandal gap Cutaneous syndactyly Sparse eyebrow Trigonocephaly 2-3 toe syndactyly Broad hallux Spinal muscular atrophy Sacral dimple Large forehead Postaxial polydactyly Intellectual disability, mild Brain atrophy Dandy-Walker malformation Aganglionic megacolon Absence seizures Elevated alkaline phosphatase Hyperphosphatemia Mild microcephaly Polydactyly Metabolic acidosis High, narrow palate Renal tubular acidosis Proximal renal tubular acidosis Muscle weakness Flexion contracture Skeletal muscle atrophy Dysphagia Depressivity Retrognathia Short philtrum Dolichocephaly High anterior hairline Achalasia Posteriorly rotated ears External genital hypoplasia Tapered finger Round face Growth hormone deficiency Hypoplasia of penis Open mouth Lower limb spasticity Pancreatitis Drooling Agitation Depressed nasal tip Long face Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Visual impairment Respiratory distress Dystonia Patent ductus arteriosus Inability to walk Lactic acidosis Short 2nd finger Thick hair Laterally extended eyebrow Oral aversion Clinodactyly of the 5th finger Postnatal growth retardation Pulmonic stenosis Thin vermilion border Bulbous nose Hypertrichosis Finger clinodactyly Nystagmus Delayed puberty Hyperreflexia Talipes equinovarus Hypertonia Obesity Hypogonadism Diabetes mellitus Micropenis Gait ataxia Macrotia Difficulty walking Bilateral trilobed lungs



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Spasticity and Stereotypy, related diseases and genetic alterations Cryptorchidism and Bruising susceptibility, related diseases and genetic alterations Hypertelorism and Azoospermia, related diseases and genetic alterations Scoliosis and Cerebellar atrophy, related diseases and genetic alterations Ataxia and Full cheeks, related diseases and genetic alterations Generalized hypotonia and Patent ductus arteriosus, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more