Abnormal facial shape, and Dyspnea

Diseases related with Abnormal facial shape and Dyspnea

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Dyspnea 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 LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Low match FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION


Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011).Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).

FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION Is also known as nasolacrimal duct obstruction|lacrimal puncta, absence of

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Respiratory distress
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION

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Other less relevant matches:

Low match EPISODIC ATAXIA TYPE 1


Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Low match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Low match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Low match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Low match JUVENILE HYALINE FIBROMATOSIS


Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HYALINE FIBROMATOSIS

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

Symptoms // Phenotype % cases
Respiratory distress Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Thickened skin Rare - less than 30% cases
Recurrent infections Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Intellectual disability Anemia Exercise intolerance Failure to thrive Mitral regurgitation Joint stiffness Acidosis Apnea Poor speech Brain atrophy Feeding difficulties Hypertonia Short stature Hearing impairment Micrognathia Posteriorly rotated ears Narrow mouth Cleft palate Kyphoscoliosis Lactic acidosis Pulmonary artery stenosis Subglottic stenosis Triangular face Generalized hypotonia Growth delay Cirrhosis Babinski sign Muscle weakness Paresthesia Malabsorption Hyporeflexia Muscular hypotonia Spasticity Hyperreflexia Cardiomyopathy Epiphyseal dysplasia Myopathy Gait disturbance Thick vermilion border Sleep apnea Brachydactyly Sparse eyebrow Mixed hearing impairment Macrocytic anemia Submucous cleft hard palate Severe sensorineural hearing impairment Broad neck Granulocytopenia Mandibulofacial dysostosis Depressed nasal bridge Hepatomegaly Wide nasal bridge Hoarse voice Anteverted nares Long philtrum Pneumonia Respiratory failure Bulbous nose Increased serum lactate Small hand Full cheeks Round face Limb undergrowth Delayed myelination Exertional dyspnea Blue sclerae Chronic diarrhea Aglossia Synotia Neoplasm Pain Flexion contracture Skeletal muscle atrophy Diarrhea Osteoporosis Osteopenia Coarse facial features Papule Abnormality of the face Subcutaneous nodule Gingival overgrowth Alobar holoprosencephaly Abnormality of the hair Skin ulcer Cardiac arrest Elbow flexion contracture Osteolysis Growth abnormality Aplasia/Hypoplasia of the skin Abnormality of the skull Severe failure to thrive Abnormality of the gastrointestinal tract Gingival fibromatosis Abnormal diaphysis morphology Intractable diarrhea Proboscis Laryngeal hypoplasia Ragged-red muscle fibers Abnormality of the eye Glucose intolerance Congenital diaphragmatic hernia Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Low-set ears Talipes equinovarus Atrial septal defect Abnormal heart morphology Agenesis of corpus callosum Polyhydramnios Retrognathia Conductive hearing impairment Anal atresia Hypoplasia of the epiglottis Pulmonary hypoplasia Hypoplasia of the maxilla Intestinal malrotation Hypotelorism Situs inversus totalis Holoprosencephaly Abnormality of the outer ear Atresia of the external auditory canal Transposition of the great arteries Tracheomalacia Microglossia Stenosis of the external auditory canal Hyperplasia of the maxilla Mandibular aplasia Sparse and thin eyebrow Sensorineural hearing impairment Webbed neck Restrictive cardiomyopathy Hydrops fetalis Ventricular tachycardia Ventricular arrhythmia Atrioventricular block Bundle branch block Right bundle branch block Hypoplastic left heart Pulmonary embolism Left bundle branch block Wolff-Parkinson-White syndrome Concave nasal ridge Left ventricular noncompaction Atrial fibrillation Abnormal myocardium morphology Abnormal left ventricle morphology Abnormal thrombosis Right ventricular failure Biventricular hypertrophy Permanent atrial fibrillation Left ventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy Abnormality of the fascia Hypertelorism Erythema Astigmatism Left ventricular hypertrophy Syncope Conjunctivitis Generalized dystonia Dystonia Dementia Gait ataxia Open mouth Involuntary movements Narrow face Torticollis Dysphonia Dysdiadochokinesis Toe walking Limb dystonia Blepharospasm Sudden cardiac death Laryngeal dystonia Torsion dystonia Eunuchoid habitus Upper limb postural tremor Lingual dystonia Sunken cheeks Movement abnormality of the tongue Ventricular septal defect Congestive heart failure Patent ductus arteriosus Arrhythmia Tachycardia Sinusitis Epiphora Bifid uvula Metabolic acidosis Hand clenching Tip-toe gait Craniofacial disproportion Seizures Microcephaly Ventriculomegaly Respiratory insufficiency Hypoplasia of the corpus callosum Vomiting Myoclonus Generalized tonic-clonic seizures Abdominal distention Poor coordination Postnatal microcephaly Clonus Muscle fibrillation Enterocolitis Fetal distress Prenatal movement abnormality Dysphagia Epicanthus Malar flattening Midface retrusion Hernia Microtia Myokymia Blurred vision Cellulitis Dysarthria Chronic sinusitis Nasal obstruction Periorbital edema Nasolacrimal duct obstruction Rhinorrhea Lacrimal duct atresia Dacryocystitis Dacryocystocele Scoliosis Delayed speech and language development Motor delay Cerebellar atrophy Calf muscle hypertrophy Headache Hyperhidrosis Vertigo Nausea Postural instability Muscle cramps Specific learning disability Choreoathetosis Clumsiness Diplopia Muscle stiffness Myotonia Progressive flexion contractures



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