Abnormal facial shape, and Downturned corners of mouth

Diseases related with Abnormal facial shape and Downturned corners of mouth

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


Top matches:

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

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Other less relevant matches:

Medium match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Medium match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Medium match INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME


Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13


MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Medium match FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION


DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

Medium match FAMILIAL LAMBDOID SYNOSTOSIS


Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Downturned corners of mouth

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

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

Common Symptoms - More than 50% cases


Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Depressed nasal bridge Microcephaly Epicanthus Synophrys Brachycephaly Hypoplasia of the corpus callosum Intellectual disability, severe Low-set ears Prominent forehead Midface retrusion Wide nasal bridge Deeply set eye Downslanted palpebral fissures Muscular hypotonia Thin upper lip vermilion Short nose Wide mouth Aggressive behavior Hyperactivity Obesity

Rare Symptoms - Less than 30% cases


Generalized myoclonic seizures Feeding difficulties Dysphagia Anteverted nares Plagiocephaly Abnormality of the pinna Posteriorly rotated ears Short stature Hypermetropia Horizontal eyebrow Cryptorchidism Frontal bossing Astigmatism Behavioral abnormality Myopia Small hand Cerebellar hypoplasia Hearing impairment Sensorineural hearing impairment Smooth philtrum Generalized tonic-clonic seizures High palate Everted lower lip vermilion Growth delay Neonatal hypotonia Short neck Absent speech Round face Increased intracranial pressure Cortical dysplasia Broad palm Nystagmus Craniofacial dysostosis Lambdoidal craniosynostosis Anemia Visual impairment Hyperreflexia Autism Autistic behavior Abnormal cardiac septum morphology Neutropenia Ectopic posterior pituitary Prominent scalp veins Toe walking Generalized-onset seizure Peripheral axonal neuropathy Polymicrogyria Inability to walk Tetraplegia Focal-onset seizure Waddling gait Spastic tetraplegia Hypsarrhythmia Pachygyria Heterotopia Short toe Pansynostosis Diminished ability to concentrate Round ear Hypoplasia of the brainstem Epileptic encephalopathy Obsessive-compulsive behavior Status epilepticus Hypertonia Flat occiput Inverted nipples Spasticity Optic nerve hypoplasia Macrocephaly Hydrocephalus Malar flattening External ear malformation Proptosis Retrognathia Telecanthus Protruding ear Craniosynostosis Blepharophimosis Facial asymmetry Agitation Arnold-Chiari type I malformation Broad-based gait Anxiety Cerebral visual impairment Microretrognathia Delayed ability to walk Enlarged cisterna magna Constipation Dimple chin Coarse facial features Attention deficit hyperactivity disorder Anterior plagiocephaly Broad forehead Bulbous nose Thick eyebrow Hirsutism Stomatocytosis Sleep disturbance Full cheeks Abnormality of the foot Congenital adrenal hypoplasia Kyphoscoliosis Micrognathia Truncal obesity Slender finger Overweight Mild microcephaly Bruxism Unilateral cleft lip Abnormality of the cerebellar vermis Ptosis Low anterior hairline Dysarthria Facial palsy Paralysis Esotropia High hypermetropia Facial diplegia Facial paralysis Severe muscular hypotonia Progressive microcephaly Esophoria Tented upper lip vermilion Long philtrum Clinodactyly Upslanted palpebral fissure Pointed chin Narrow palpebral fissure Sandal gap Cerebral atrophy Motor delay Postnatal microcephaly Cleft lip Developmental regression Short philtrum Abnormality of the cerebral white matter Cleft upper lip Febrile seizures Hypotelorism High-frequency hearing impairment Accommodative esotropia Hyporeflexia Malignant hyperthermia Hyperglycerolemia Clinodactyly of the 5th finger Cerebral cortical atrophy Tapered finger Narrow forehead Congenital hypothyroidism Underdeveloped supraorbital ridges Congenital stationary night blindness Adrenocortical hypoplasia Abnormality of brain morphology Large fleshy ears Multifocal cerebral white matter abnormalities Peripheral neuropathy Gait disturbance Talipes equinovarus Ventriculomegaly Increased urinary glycerol Episodic vomiting Myopathy Lethargy Vomiting Osteoporosis Diabetes mellitus Acidosis Hypoglycemia Small for gestational age Muscular dystrophy Metabolic acidosis Adrenal hypoplasia Coma Hypertriglyceridemia Hyperlipidemia Adrenal insufficiency Loss of consciousness Pathologic fracture Ketoacidosis Posterior plagiocephaly



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