Abnormal facial shape, and Dysphagia

Diseases related with Abnormal facial shape and Dysphagia

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


Top matches:

Low 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

Low match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

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Other less relevant matches:

Low match TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME


TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Low match SPINOCEREBELLAR ATAXIA TYPE 13


Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 13 Is also known as sca13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 13

Low 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

Low match MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B


Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Low match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Low 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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dysphagia

Symptoms // Phenotype % cases
Dysarthria Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Gait disturbance Motor delay Facial palsy Delayed speech and language development Kyphoscoliosis Ptosis Toe walking Seizures

Rare Symptoms - Less than 30% cases


Loss of speech Esotropia Tetraplegia Hypertelorism Prominent forehead Low-set ears Depressed nasal bridge High palate Strabismus Hyperpigmentation of the skin Mild short stature Micrognathia Talipes equinovarus Mandibular prognathia Arthrogryposis multiplex congenita Abnormality of the foot Muscle cramps Urinary incontinence Hyperreflexia Downturned corners of mouth Corpus callosum atrophy Absent speech Muscle weakness Dystonia Gait ataxia Torticollis Microcephaly Limb muscle weakness Fatigue Skeletal muscle atrophy Muscular hypotonia Hearing impairment Spasticity Nystagmus Cerebellar atrophy Pain Impaired vibration sensation at ankles EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 2 muscle fiber atrophy Impaired continence Neoplasm Anemia Decreased size of nerve terminals Limb-girdle muscle weakness Fever Vomiting Constipation Abdominal pain Weight loss Unsteady gait Fatigable weakness Hyperreflexia in upper limbs Babinski sign Pollakisuria Abnormality of the periventricular white matter Tremor Cerebral cortical atrophy Postural tremor Impaired vibratory sensation Lower limb hyperreflexia Spastic gait Spastic paraplegia Coarse facial features Foot dorsiflexor weakness Mild microcephaly Absent Achilles reflex Cataract Urinary retention Paraplegia Primitive reflex Abnormality of the cerebral white matter Pseudobulbar paralysis Growth delay Paraganglioma Pallor Inability to walk Downslanted palpebral fissures Ventriculomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Hyporeflexia Cerebellar hypoplasia Brachycephaly Deeply set eye Wide mouth Peripheral axonal neuropathy Polymicrogyria Small hand Giant hypertrophic gastritis Everted lower lip vermilion Focal-onset seizure Waddling gait Generalized-onset seizure Spastic tetraplegia Pachygyria Heterotopia Short toe Plagiocephaly Hypoplasia of the brainstem Cortical dysplasia Peripheral neuropathy Neoplasm of the gastrointestinal tract Abnormality of the liver Irregular hyperpigmentation Skin rash Nausea and vomiting Abdominal distention Gastrointestinal hemorrhage Eosinophilia Sarcoma Urticaria Intestinal obstruction Large hands Hypermelanotic macule Neurofibromas Lipoma Gastrointestinal obstruction Abnormality of the immune system Schwannoma Gastrointestinal stroma tumor Leiomyosarcoma Soft tissue sarcoma Mastocytosis Neoplasm of the small intestine Neoplasm of the rectum Esophageal neoplasm Neoplasm of the colon Neoplasm of the stomach Weak cry Paralysis Decreased muscle mass Thickened helices Abnormality of the skeletal system Short neck Atrial septal defect Pectus carinatum Dolichocephaly Pulmonic stenosis Webbed neck Narrow forehead Poor suck Macrocephaly Scoliosis Syndactyly Camptodactyly Hip dislocation Facial asymmetry Talipes Limitation of joint mobility Hip dysplasia Cutaneous syndactyly Deep philtrum Cognitive impairment Choreoathetosis Metatarsus adductus Blepharospasm Respiratory distress Dementia Open mouth Involuntary movements Narrow face Dysphonia Dysdiadochokinesis Limb dystonia Generalized dystonia Laryngeal dystonia Generalized myoclonic seizures Torsion dystonia Eunuchoid habitus Upper limb postural tremor Lingual dystonia Sunken cheeks Movement abnormality of the tongue Ataxia Cerebral atrophy Developmental regression Dysmetria Hammertoe Short finger Ophthalmoparesis High-frequency hearing impairment Anteverted nares Short nose Midface retrusion Posteriorly rotated ears Hypermetropia Smooth philtrum High hypermetropia Facial diplegia Facial paralysis Esophoria Sensorineural hearing impairment Accommodative esotropia Respiratory failure Proximal muscle weakness Long face Dental malocclusion Decreased fetal movement Respiratory insufficiency due to muscle weakness Easy fatigability Gowers sign Epicanthus Impaired visuospatial constructive cognition Abnormality of the musculature Difficulty walking Distal arthrogryposis Trismus Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Calcaneovalgus deformity Tall chin Optic atrophy Intellectual disability, mild Myoclonus Postural instability Upgaze palsy Bradykinesia Optic disc pallor Clumsiness Limb ataxia Urinary urgency Hyperactive deep tendon reflexes Difficulty running Titubation Impaired distal vibration sensation Jerky ocular pursuit movements Broad palm



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