Micrognathia, and Broad forehead

Diseases related with Micrognathia and Broad forehead

In the following list you will find some of the most common rare diseases related to Micrognathia and Broad forehead that can help you solving undiagnosed cases.


Top matches:

High match MENTAL RETARDATION, X-LINKED 61; MRX61


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 61; MRX61

High 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

High match AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME


AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

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Other less relevant matches:

High match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

High match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

High match OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18


Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18

High match 5P13 MICRODUPLICATION SYNDROME


5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

High match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

High match GABRIELE-DE VRIES SYNDROME


Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Broad forehead

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Micrognathia and Broad forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Joint laxity Low-set ears Epicanthus Upslanted palpebral fissure Strabismus Scoliosis Short philtrum Seizures Pulmonic stenosis Abnormal facial shape Arachnodactyly Microcephaly Behavioral abnormality Feeding difficulties Prominent nose Growth delay Wide nasal bridge

Rare Symptoms - Less than 30% cases


Congestive heart failure Round face Malar flattening Muscular hypotonia Ventriculomegaly Hypotelorism Abnormality of the skeletal system Intrauterine growth retardation Atrial septal defect Frontal bossing Delayed speech and language development Agenesis of corpus callosum Abnormality of the dentition Bulbous nose Joint hypermobility Recurrent fractures Blue sclerae Bowing of the long bones Umbilical hernia Craniosynostosis Posteriorly rotated ears Brachycephaly Disproportionate tall stature Long fingers Abnormal heart valve morphology Short stature Delayed myelination Thin upper lip vermilion Abnormality of the pinna Long face Ptosis Failure to thrive Mitral valve prolapse Dental crowding Cryptorchidism Waddling gait Abnormality of the cardiovascular system Small hand Gliosis Limb undergrowth Facial asymmetry Convex nasal ridge Atrial fibrillation Thick lower lip vermilion Mitral regurgitation Chest pain Colpocephaly High, narrow palate Cardiomyopathy Overweight Turricephaly Long foot Lacrimal duct stenosis Periorbital fullness Pain Long philtrum Tachycardia Pectus excavatum Esophageal atresia Sparse eyebrow Dyspnea Pointed chin Hypertrophic cardiomyopathy Aortic regurgitation Intellectual disability, moderate Thromboembolism Striae distensae Hypoplasia of the maxilla Cognitive impairment Large hands Deeply set eye Abnormal glycosylation Postnatal growth retardation Protruding ear Hip dislocation Triangular face Mandibular prognathia Narrow nasal ridge Large fontanelles Congenital hip dislocation Cutis laxa Growth abnormality Redundant skin Premature skin wrinkling Gastroesophageal reflux Osteoporosis Abnormality of the cerebral white matter Quadricuspid aortic valve Prominent superficial veins Supraventricular tachycardia Endocarditis Tricuspid valve prolapse Asthenia Mastoiditis Bacterial endocarditis Reversed usual vertebral column curves Prominent forehead Anxiety Hypothyroidism Absent speech Dystonia Hydrocephalus Tremor Midface retrusion Osteopenia Pathologic fracture Obsessive-compulsive behavior Joint stiffness Snoring Retrocerebellar cyst Uplifted earlobe Cleft palate Anteverted nares Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Camptodactyly of finger Tracheomalacia Prominent nasal bridge Narrow chest Abdominal distention Vesicoureteral reflux Aganglionic megacolon Hydroureter Anonychia Obstructive sleep apnea Cortical gyral simplification Aplasia/Hypoplasia of the abdominal wall musculature Aortic valve stenosis Poor speech Fine hair Arrhythmia Delayed skeletal maturation Dolichocephaly Joint hyperflexibility Abnormality of the skin Tricuspid regurgitation Laryngomalacia Ataxia Depressed nasal bridge Respiratory distress Hypoplasia of the corpus callosum Apnea Esotropia Sleep apnea Hyperparathyroidism Abdominal situs inversus Exotropia Sparse hair Thin ribs Vertebral compression fractures Generalized osteoporosis Thin bony cortex Biconcave vertebral bodies Macrocephaly Proptosis Blepharophimosis Femoral bowing Small for gestational age Astigmatism Sleep disturbance Narrow forehead Low posterior hairline Short palpebral fissure Stereotypy Long palpebral fissure Wormian bones Megacystis Epiphyseal stippling Cataract Hepatomegaly Ventricular septal defect Areflexia High forehead Severe global developmental delay Decreased fetal movement Secundum atrial septal defect Long eyelashes Perimembranous ventricular septal defect Right aortic arch Generalized neonatal hypotonia Motor delay Dysphagia Hernia Pneumonia Mild intrauterine growth retardation



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