Abnormal facial shape, and Dental crowding

Diseases related with Abnormal facial shape and Dental crowding

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


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

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 INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME


INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Medium match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Medium match CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM


Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Medium match AURICULOCONDYLAR SYNDROME 2; ARCND2


Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Medium match CK SYNDROME


CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.

CK SYNDROME Is also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|mental retardation, x-linked, with thin body habitus and cortical malformation

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CK SYNDROME

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Medium match ALAZAMI-YUAN SYNDROME; ALYUS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dental crowding

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Micrognathia Microcephaly Short stature Delayed speech and language development Long face Motor delay Hypertelorism Scoliosis

Rare Symptoms - Less than 30% cases


Dolichocephaly Thin upper lip vermilion Pointed chin Abnormality of the pinna Broad forehead Synophrys Feeding difficulties Prominent nose Strabismus Hearing impairment Cleft palate Short nose Glossoptosis Hyperactivity Cupped ear Prominent nasal bridge Low anterior hairline Brachycephaly Ptosis Round face Abnormality of the skeletal system Intellectual disability, mild Posteriorly rotated ears Narrow mouth Gastroesophageal reflux Neonatal hypotonia Apnea Hirsutism Full cheeks Central apnea Wide nasal bridge Preauricular skin tag Facial asymmetry Poor speech Dental malocclusion Overfolding of the superior helices Upper airway obstruction Aggressive behavior Retrognathia Hyperlordosis Long penis Upslanted palpebral fissure Ankylosis Snoring Malar flattening Kyphosis Low-set, posteriorly rotated ears Hypoplastic superior helix Epicanthus Cognitive impairment Bulbar palsy Cleft at the superior portion of the pinna Speech articulation difficulties Poor suck Question mark ear Temporomandibular joint ankylosis Mandibular condyle hypoplasia Mandibular condyle aplasia Hypoplasia of the corpus callosum Irritability Thick eyebrow Aspiration Mild short stature Broad neck Hypomimic face Cryptorchidism Long philtrum Narrow chest Highly arched eyebrow Dysmetria Single transverse palmar crease Underdeveloped nasal alae Wide intermamillary distance Long eyelashes Broad hallux Short columella Unilateral cryptorchidism Spastic gait Paraplegia Joint hypermobility Almond-shaped palpebral fissure Polymicrogyria Sleep disturbance Pachygyria Narrow face Abnormality of digit Abnormal cortical bone morphology Slender build Dysarthria Spastic paraplegia Short neck Cerebellar atrophy Cerebral atrophy Areflexia Recurrent respiratory infections Gait ataxia Respiratory tract infection Respiratory distress Joint laxity Macrocephaly Abnormality of the skin Cafe-au-lait spot Narrow palate Arrhythmia Delayed skeletal maturation Short philtrum Pulmonic stenosis Joint hyperflexibility Mitral valve prolapse EEG abnormality Aortic valve stenosis Tricuspid regurgitation Abnormal heart valve morphology Abnormality of the dentition Depressivity Alopecia Conductive hearing impairment Attention deficit hyperactivity disorder Autism Coloboma Long foot Prominent forehead Kyphoscoliosis Coarse facial features Intellectual disability, moderate Small for gestational age Broad nasal tip Thick lower lip vermilion Macrotia Absent speech Wide mouth Neurological speech impairment Thick vermilion border Plagiocephaly Incoordination Delayed ability to walk Downslanted palpebral fissures Protruding ear Everted lower lip vermilion Narrow maxilla Coarctation of aorta Deeply set eye Camptodactyly Abnormal cardiac septum morphology Carious teeth Anal atresia Arachnodactyly Intestinal malrotation Thin skin Abnormal heart morphology Abnormality of the genital system Finger clinodactyly Short chin Cutis marmorata Long nose Narrow nose Soft skin Constipation Pectus excavatum Hypoplasia of the maxilla Trismus Sparse and thin eyebrow Sparse eyelashes Bicuspid aortic valve Sparse eyebrow Preauricular pit Hydroureter Stenosis of the external auditory canal Eyelid coloboma Atrial septal defect Mandibulofacial dysostosis Delayed eruption of primary teeth Lower eyelid coloboma Failure to thrive Flexion contracture Intrauterine growth retardation Ventricular septal defect Curly eyelashes



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Decreased testicular size, related diseases and genetic alterations Ventricular septal defect and Hypertrophic cardiomyopathy, related diseases and genetic alterations Brachydactyly and Hepatic steatosis, related diseases and genetic alterations Skeletal muscle atrophy and Lumbar hyperlordosis, related diseases and genetic alterations Micrognathia and Limitation of joint mobility, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more