Cleft palate, and Muscular hypotonia of the trunk

Diseases related with Cleft palate and Muscular hypotonia of the trunk

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


Top matches:

Medium match WEISSENBACHER- ZWEYMULLER SYNDROME


Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia|heterozygous osmed|pierre robin sequence-fetal chondrodysplasia syndrome|pierre robin syndrome-fetal chondrodysplasia syndrome

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Cleft palate
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about WEISSENBACHER- ZWEYMULLER SYNDROME

Medium match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7


Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Medium 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

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Other less relevant 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 AMISH LETHAL MICROCEPHALY


Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Medium 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

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 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 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Cleft palate and Muscular hypotonia of the trunk

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

Patients with Cleft palate and Muscular hypotonia of the trunk. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Hearing impairment Seizures Short nose Cryptorchidism Short stature Microcephaly Spasticity Delayed speech and language development Feeding difficulties Hypoplasia of the corpus callosum Downturned corners of mouth Wide nasal bridge Progressive microcephaly Severe global developmental delay Growth delay Long philtrum Myopia Depressed nasal bridge Epicanthus Absent speech Wide nose Ventricular septal defect Hypertonia Broad nasal tip Tetraparesis Small for gestational age Spastic tetraparesis Failure to thrive Low-set ears Sloping forehead Intellectual disability, severe Optic atrophy Muscular hypotonia Conductive hearing impairment Flexion contracture

Rare Symptoms - Less than 30% cases


Scoliosis Telecanthus Short 5th finger Hypospadias Aggressive behavior Protruding ear Cleft lip Thin upper lip vermilion Highly arched eyebrow Poor speech Ptosis Depressed nasal tip Agenesis of corpus callosum Prominent nasal bridge Postnatal growth retardation Round face Nystagmus Intellectual disability, moderate Widely spaced teeth Macrotia Ventriculomegaly Encephalopathy Cerebellar hypoplasia Myoclonus Acidosis Generalized tonic-clonic seizures Micropenis Anteverted nares Hyperreflexia Lactic acidosis Sensorineural hearing impairment Partial agenesis of the corpus callosum Motor delay Short palpebral fissure Deeply set eye Coronal cleft vertebrae Glossoptosis Dystonia Hernia Rhizomelia Attention deficit hyperactivity disorder Bifid uvula Proptosis Hyperactivity Partial abdominal muscle agenesis Broad philtrum Bilateral conductive hearing impairment Hypoplasia of the musculature Limited elbow movement Esodeviation Epicanthus inversus Caudal appendage Prominence of the premaxilla Prominent interphalangeal joints Tall chin Diastasis recti Brachydactyly Intrauterine growth retardation Enlarged epiphyses Premature osteoarthritis Short 5th metacarpal Enlarged joints Beaking of vertebral bodies Cerebral atrophy Clinodactyly Bilateral cleft lip and palate Craniosynostosis Umbilical hernia Omphalocele Blepharophimosis Broad forehead Hip dislocation Cleft upper lip Joint hypermobility Abnormal heart morphology Small hand Depressivity Large tarsal bones Abnormal vertebral morphology Bilateral cleft lip Horseshoe kidney Torticollis Radioulnar synostosis Ectropion Supernumerary nipple Downslanted palpebral fissures Short distal phalanx of finger Abnormal lacrimal duct morphology Cognitive impairment Broad foot Abnormality of the vertebral column Pierre-Robin sequence Vitreoretinopathy Retinal detachment Flared metaphysis Epiphyseal dysplasia Feeding difficulties in infancy Hyperlordosis Joint stiffness Platyspondyly Micromelia Abdominal obesity Bulbous nose Prominent supraorbital ridges Short palm Short metacarpal Abnormal joint morphology Short long bone Recurrent pneumonia Otitis media Abnormality of the skin Limb undergrowth Short phalanx of finger Lumbar hyperlordosis Encephalocele Depressed nasal ridge Abnormal form of the vertebral bodies Abnormality of the metaphysis Mixed hearing impairment Arthralgia Osteoarthritis Central hypotonia Hypoplasia of the maxilla Delayed myelination Vesicoureteral reflux Oligohydramnios Ventricular hypertrophy Small nail Wide anterior fontanel Short toe Patent foramen ovale Cortical gyral simplification Long palpebral fissure Right ventricular hypertrophy Delayed skeletal maturation Capillary malformation Meningocele Hemiclonic seizures Abnormal hair whorl Synostosis of carpal bones Abnormality of the skeletal system Kyphosis Malar flattening Occipital encephalocele Disproportionate short stature Midface retrusion Birth length less than 3rd percentile Optic disc pallor Male hypogonadism Prominent nasal tip Short philtrum Neurological speech impairment Smooth philtrum Thin vermilion border Wide intermamillary distance Absence seizures Microretrognathia Long nose Prominent metopic ridge Bruxism Long upper lip Prominent forehead Hepatomegaly Osteoporosis Osteopenia Irritability Metabolic acidosis Limitation of joint mobility Aciduria Decreased fetal movement Cerebellar vermis hypoplasia Spina bifida Lissencephaly Abnormality of the pinna Hypoplastic left atrium Hypoplasia of the fovea 2-3 toe syndactyly Delayed gross motor development Metaphyseal widening Short femur Abnormality of the mandible Submucous cleft soft palate Mild neurosensory hearing impairment Syndactyly Toe syndactyly Polymicrogyria Heterotopia Abnormality of neuronal migration Bicornuate uterus Cortical dysplasia Hydrocephalus Microphthalmia Brachycephaly Retrognathia Sparse hair Pulmonary hypoplasia Chorea Congenital diaphragmatic hernia Short chin Anophthalmia Limb hypertonia Enlarged cisterna magna Large earlobe Long face Obesity Babinski sign Hypogonadism Diabetes mellitus Gait ataxia Autism Difficulty walking EEG abnormality Hypoglycemia Delayed puberty Inability to walk Macrogyria Thick vermilion border Tapered finger Full cheeks Growth hormone deficiency Hypoplasia of penis Open mouth Lower limb spasticity Pancreatitis Drooling Agitation External genital hypoplasia Talipes equinovarus Oval face Decreased skull ossification High palate Dilation of lateral ventricles Cleft soft palate Organic aciduria Severe lactic acidosis Congenital microcephaly Spinal dysraphism Temperature instability Small anterior fontanelle Muscle weakness Pain Short neck Dilated fourth ventricle Pallor Coloboma Epileptic encephalopathy Hypsarrhythmia Decreased body weight Postnatal microcephaly Hypohidrosis Plagiocephaly Optic nerve hypoplasia Abnormally large globe Overlapping fingers Aplasia/Hypoplasia of the capital femoral epiphysis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Osteoporosis, related diseases and genetic alterations Wide nasal bridge and Autism, related diseases and genetic alterations Flexion contracture and Hydrocephalus, related diseases and genetic alterations Peripheral neuropathy and Dysmetria, related diseases and genetic alterations

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