Abnormal facial shape, and Open mouth

Diseases related with Abnormal facial shape and Open mouth

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


Top matches:

Medium match PRIMARY DYSTONIA, DYT4 TYPE


DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

PRIMARY DYSTONIA, DYT4 TYPE Is also known as dystonia musculorum deformans 4|whispering dysphonia, hereditary|dyt4|hereditary whispering dysphonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Respiratory distress
  • Dystonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT4 TYPE

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 SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME


Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME

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Other less relevant matches:

Medium match X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME


X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

Medium match LARGE CONGENITAL MELANOCYTIC NEVUS


A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

Medium match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47


Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Medium match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49


Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Open mouth

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

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

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Ventriculomegaly Hydrocephalus Short philtrum Short nose Anteverted nares Delayed speech and language development Hypoplasia of the corpus callosum Hypertelorism Facial hypotonia Everted lower lip vermilion Short stature

Rare Symptoms - Less than 30% cases


Strabismus Long nose Delayed gross motor development Coarse facial features Tented upper lip vermilion Short chin Spastic tetraplegia Narrow forehead EEG abnormality Long face Tetraplegia Inability to walk Poor speech Downslanted palpebral fissures Myopathy Neonatal hypotonia Frontal bossing Full cheeks Muscular hypotonia of the trunk Gait disturbance Hypertonia High palate Dystonia Torticollis Long eyelashes Anxiety Muscular hypotonia Spasticity Hyperreflexia Aggressive behavior Intellectual disability, severe Hyperactivity Macrotia Thick vermilion border Babinski sign Highly arched eyebrow Underdeveloped nasal alae Growth hormone deficiency Small nail Febrile seizures Waddling gait Short palpebral fissure Hypertrichosis Underdeveloped supraorbital ridges Paraplegia Proportionate short stature Abnormality of the nares Hypoplastic fifth toenail Bulbous nose Pes planus Talipes equinovarus Wide mouth Flexion contracture Spastic paraplegia Dysarthria Wide nasal bridge Abnormality of the columella Hypoglycemia Protruding tongue Encephalopathy Plagiocephaly Broad hallux Prominent metopic ridge Abnormal hair whorl Abnormality of the orbital region Deviation of the 5th finger Optic atrophy Myoclonus Joint hypermobility Severe global developmental delay Prominent nose Dandy-Walker malformation Epileptic encephalopathy Cerebral calcification Hypotelorism Holoprosencephaly Thick upper lip vermilion Delayed myelination Facial asymmetry Abnormality of the periventricular white matter Deeply set eye Genu recurvatum Excessive salivation Acetabular dysplasia Everted upper lip vermilion Myopia Macrocephaly Diarrhea Hip dislocation Agenesis of corpus callosum Overgrowth Chronic diarrhea Congenital hip dislocation Pyloric stenosis Congenital muscular torticollis Increased head circumference Visual impairment Pectus excavatum Short distal phalanx of finger Rhabdomyosarcoma Posteriorly rotated ears Cryptorchidism Psychosis Drooling Schizophrenia Agitation Restlessness Short attention span Long ear Ventricular septal defect Thin upper lip vermilion Abnormal cardiac septum morphology Decreased fetal movement Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Increased variability in muscle fiber diameter Myopathic facies Dilation of lateral ventricles Feeding difficulties Flat face Upslanted palpebral fissure High forehead Toe walking Respiratory distress Dementia Gait ataxia Kyphoscoliosis Involuntary movements Narrow face Dysphonia Dysdiadochokinesis Limb dystonia Movement abnormality of the tongue Generalized dystonia Blepharospasm Laryngeal dystonia Torsion dystonia Eunuchoid habitus Upper limb postural tremor Lingual dystonia Sunken cheeks Skeletal muscle atrophy Protruding ear Clinodactyly Prominence of the premaxilla Calvarial skull defect Periorbital fullness Dysphagia Thick hair Narrow nasal ridge Cutaneous melanoma Epidermal nevus Congenital giant melanocytic nevus Hypermelanotic macule Nevus spillus Growth delay Ptosis Low-set ears Depressed nasal bridge Intrauterine growth retardation Intellectual disability, mild Midface retrusion Narrow nasal bridge Melanocytic nevus Triangular face Abnormality of skin pigmentation Intellectual disability, profound Neoplasm Failure to thrive Long philtrum Prominent forehead Broad forehead Papule Pruritus Broad nasal tip Deep philtrum Nevus Round face Subcutaneous nodule Generalized hirsutism Neoplasm of the skin Hypopigmented skin patches Melanoma Sarcoma Fusion of the left and right thalami



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