Abnormal facial shape, and High palate

Diseases related with Abnormal facial shape and High palate

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


Top matches:

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Medium match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

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Other less relevant matches:

Medium match MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A


Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Medium match X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY


X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Medium match MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB


MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Medium match MENTAL RETARDATION, X-LINKED 30; MRX30


MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Top 5 symptoms//phenotypes associated to Abnormal facial shape and High palate

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Long face Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and High palate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Macrotia Short stature Delayed speech and language development Epicanthus Short nose

Rare Symptoms - Less than 30% cases


Scoliosis Muscle weakness Anteverted nares Aggressive behavior Hyperactivity Upslanted palpebral fissure Long philtrum Myopathy Skeletal muscle atrophy Wide nasal bridge Progressive muscle weakness Microcephaly Depressed nasal bridge Hypertrophic cardiomyopathy Motor delay Dilated cardiomyopathy Wide mouth Intellectual disability, severe Cardiomyopathy Narrow face Low-set ears Intellectual disability, mild Congestive heart failure Pointed chin Hypopituitarism Myopathic facies EMG: myopathic abnormalities Scapular winging Lower limb muscle weakness Proximal muscle weakness Respiratory failure Elevated serum creatine phosphokinase Respiratory insufficiency Panhypopituitarism Myelomeningocele Frontal bossing Adrenal insufficiency Narrow palpebral fissure Spina bifida occulta Mildly elevated creatine phosphokinase Aspiration Downturned corners of mouth Growth hormone deficiency Delayed puberty Synophrys Intellectual disability, moderate Coarse facial features Hypothyroidism Severe short stature Sandal gap Spina bifida Arrhythmia Centrally nucleated skeletal muscle fibers Short attention span Agammaglobulinemia Short chin Decreased antibody level in blood Round face Everted lower lip vermilion Respiratory tract infection Retrognathia Recurrent respiratory infections Pneumonia Recurrent infections Immunodeficiency Growth delay Long ear Restlessness Type 1 muscle fiber predominance Agitation Schizophrenia Delayed gross motor development Drooling Open mouth Psychosis Flat face Anxiety Thin upper lip vermilion Macrocephaly Scapuloperoneal weakness Civatte bodies Scapuloperoneal amyotrophy Reduced vital capacity Obesity Clinodactyly Brachycephaly Flexion contracture Ptosis Long foot Slender build Large hands Prominent supraorbital ridges Thick lower lip vermilion Hypotelorism Short philtrum Deeply set eye Narrow mouth Gait ataxia Downslanted palpebral fissures Abnormality of the sternum Ataxia Edema Multiple pterygia Left ventricular noncompaction Right ventricular hypertrophy Tricuspid regurgitation Pterygium Ventricular arrhythmia Cardiac arrest Hydrops fetalis Left ventricular hypertrophy Ventricular hypertrophy Cardiomegaly Abnormality of the musculature Neonatal hypotonia Depressivity Facial asymmetry Absent speech Kyphosis Pectus excavatum Prominent forehead Mandibular prognathia Strabismus Delayed ability to walk Incoordination Plagiocephaly Dental crowding Thick vermilion border Poor speech Neurological speech impairment Facial palsy Pectus carinatum Prominent nasal bridge Narrow chest Arachnodactyly Hypoplasia of the maxilla Growth abnormality Hip contracture High pitched voice Ophthalmoparesis Easy fatigability Poor head control Nasal speech Ophthalmoplegia Chronic bronchitis



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