Cleft palate, and Spasticity

Diseases related with Cleft palate and Spasticity

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


Top matches:

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match MENTAL RETARDATION, X-LINKED 102; MRX102


An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 102; MRX102

Low match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

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Other less relevant matches:

Low match LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME


Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Low match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Low match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

Low 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

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42


Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

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

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Absent speech Abnormal facial shape Visual impairment Strabismus Hypoplasia of the corpus callosum Hearing impairment Micrognathia Muscular hypotonia of the trunk Hypertelorism Epicanthus Dystonia Hypertonia Nystagmus Intellectual disability, severe Scoliosis Autistic behavior Short stature Cryptorchidism Failure to thrive

Rare Symptoms - Less than 30% cases


Short philtrum Depressed nasal bridge Ptosis Cerebral visual impairment Hypospadias Tetraparesis Spastic tetraparesis Muscle weakness Delayed speech and language development Hypsarrhythmia Wide nasal bridge Hydronephrosis Long philtrum Cerebellar hypoplasia Sparse hair Wide nose Sensorineural hearing impairment Short palpebral fissure Motor delay Growth delay Short nose Broad nasal tip Ventriculomegaly Autism Decreased body weight Ataxia Thin vermilion border Hyperactivity Chorea Widely spaced teeth Microretrognathia Small for gestational age Absence seizures Wide intermamillary distance Long nose Round face Bifid uvula Highly arched eyebrow Downturned corners of mouth Smooth philtrum Neurological speech impairment Telecanthus Protruding ear Abnormality of the pinna Prominent metopic ridge Deeply set eye Thin upper lip vermilion Prominent forehead Agenesis of corpus callosum Abnormality of the dentition Patent ductus arteriosus Hypermetropia Low-set ears Hypoglycosylation of alpha-dystroglycan Hypoplasia of the pons Oligohydramnios Inability to walk Partial agenesis of the corpus callosum Blue sclerae Muscular dystrophy Hypohidrosis Coloboma Prominent nasal bridge Generalized tonic-clonic seizures Epileptic encephalopathy Optic disc pallor Postnatal microcephaly Progressive microcephaly Postnatal growth retardation Plagiocephaly Optic nerve hypoplasia Abnormally large globe Overlapping fingers Dilated fourth ventricle Oval face Pallor Intellectual disability, moderate Prominent nasal tip Limb hypertonia Long upper lip EEG abnormality Attention deficit hyperactivity disorder Polymicrogyria Delayed myelination Atrial septal defect Impaired smooth pursuit Macrotia Pain High palate Hyperreflexia Short neck Encephalopathy Micropenis Bruxism Behavioral abnormality Coarctation of aorta Bradykinesia Syndactyly Pectus excavatum Clinodactyly Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Dysplastic corpus callosum Decreased activity of mitochondrial complex I Macrovesicular hepatic steatosis Ragged-red muscle fibers Leukoencephalopathy Kyphoscoliosis Muscle stiffness Cholestasis Joint laxity Increased serum lactate Ventricular septal defect Hepatic steatosis Lactic acidosis Ophthalmoplegia Abnormality of the cerebral white matter Irritability Developmental regression Elevated hepatic transaminase Neonatal hypotonia Acidosis Pectus carinatum Toe syndactyly Hepatomegaly Abnormality of movement Ankyloglossia Brachydactyly Hydrocephalus Elevated serum creatine phosphokinase Cleft upper lip Rotary nystagmus Nevus flammeus Sparse eyebrow Tented upper lip vermilion Nevus Microcornea Everted lower lip vermilion Congenital cataract Aggressive behavior Abnormal cardiac septum morphology Cleft lip Dilatation Kyphosis Downslanted palpebral fissures Cataract Microphthalmia Dyskinesia Hypoplastic left atrium Bicornuate uterus Anophthalmia Short chin Broad-based gait Congenital diaphragmatic hernia Precocious puberty Pulmonary hypoplasia Severe global developmental delay Cortical dysplasia Retrognathia Brachycephaly Hernia Macrogyria



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