Micrognathia, and Pectus carinatum

Diseases related with Micrognathia and Pectus carinatum

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

Top matches:

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Other less relevant matches:

Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GERODERMA OSTEODYSPLASTICA Is also known as walt disney dwarfism|gerodermia osteodysplastica

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERODERMA OSTEODYSPLASTICA

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Top 5 symptoms//phenotypes associated to Micrognathia and Pectus carinatum

Symptoms // Phenotype % cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Pectus carinatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia High palate Abnormal facial shape Microcephaly Seizures Joint laxity Gastroesophageal reflux Hearing impairment Motor delay Flexion contracture Low-set ears Platyspondyly Deeply set eye Midface retrusion Myopia Sensorineural hearing impairment Absent speech

Rare Symptoms - Less than 30% cases

Long fingers Mandibular prognathia Failure to thrive Spasticity Epicanthus Mitral valve prolapse Gait ataxia Constipation Muscular hypotonia Short nose Cerebellar atrophy Optic atrophy Muscular hypotonia of the trunk Delayed speech and language development Nystagmus Cutis laxa Hyperactivity Hernia Cardiomyopathy Cryptorchidism Wide mouth Developmental regression Pes planus Arachnodactyly Joint hypermobility Ataxia Osteopenia Increased susceptibility to fractures Prominent forehead Depressed nasal bridge Short stature Osteoarthritis Recurrent fractures Osteoporosis Wormian bones Arthropathy Glossoptosis Pierre-Robin sequence Exostoses Pectus excavatum Retinal detachment Cleft palate Abnormality of the eye Arthralgia Cataract Anteverted nares High myopia Adducted thumb Ectopia lentis Heart murmur Neonatal respiratory distress Tricuspid regurgitation Emphysema Megalocornea Lipoatrophy Aortic root aneurysm Abnormal cardiac ventricle morphology Hypoxemia Abnormal echocardiogram Long toe Enlarged thorax Ascending tubular aorta aneurysm Tricuspid valve prolapse Iridodonesis Brachycephaly Dolichocephaly Decreased motor nerve conduction velocity Hip dysplasia Hypertrophic cardiomyopathy Congenital cataract Delayed puberty Abnormality of the foot Peripheral axonal neuropathy Long face Distal amyotrophy Inability to walk Increased serum lactate Esotropia Aciduria Absence seizures Mitral regurgitation Optic nerve hypoplasia Abnormality of mitochondrial metabolism Wide nasal bridge Downslanted palpebral fissures Hyporeflexia Small for gestational age Crumpled ear High, narrow palate Decreased testicular size Poor eye contact Blue sclerae Talipes calcaneovarus Kyphoscoliosis Increased arm span Hyperextensibility of the finger joints Femoral bowing Tibial bowing Prematurely aged appearance Protuberant abdomen Irregular vertebral endplates Periodontitis Premature skin wrinkling Progeroid facial appearance Severe global developmental delay Beaking of vertebral bodies Vertebral compression fractures Broad forehead Hyperextensible skin Abnormal pyramidal sign Biconcave vertebral bodies Abnormal bone ossification Postnatal growth retardation Pseudoepiphyses Stooped posture Neonatal hypotonia Strabismus Thin upper lip vermilion Hyperreflexia Macrotia Skeletal muscle atrophy Redundant skin Abnormality of vision Growth delay Dental malocclusion Talipes equinovarus Intellectual disability, mild Severe short stature Edema EEG abnormality Camptodactyly Hip dislocation Joint hyperflexibility Talipes Microcornea Infantile muscular hypotonia Hypoplasia of the maxilla Spastic tetraparesis Abnormality of the outer ear Thin skin Tetraparesis Spastic tetraplegia Abnormal form of the vertebral bodies Bowing of the long bones Abnormality of epiphysis morphology Triangular face Neurodegeneration Congenital hip dislocation Smooth philtrum Poor speech Abnormality of the cerebral white matter High forehead Shawl scrotum Upslanted palpebral fissure Centrally nucleated skeletal muscle fibers Pes cavus Dyspnea Retrognathia Rigidity Facial palsy Generalized muscle weakness Abnormal lung morphology Exercise intolerance Poor head control Bulbar palsy Spinal rigidity Recurrent lower respiratory tract infections Ptosis Chronic lung disease Hypertelorism Gait disturbance Hypertonia Behavioral abnormality Autism Anxiety Aggressive behavior Hyperlordosis Autistic behavior Attention deficit hyperactivity disorder Respiratory insufficiency Muscle weakness Thick vermilion border Increased bone mineral density Epiphyseal dysplasia Abnormal joint morphology Vitreoretinopathy Cleft soft palate Premature osteoarthritis Enlarged epiphyses Abnormality of cardiovascular system morphology Narrow mouth Protruding ear Facial asymmetry Delayed eruption of teeth Progressive hearing impairment Abnormal metacarpal morphology Prominent supraorbital ridges Mixed hearing impairment Generalized osteoporosis Dentinogenesis imperfecta Thoracic platyspondyly Long philtrum Glaucoma Retinopathy Bifid uvula Spondyloepiphyseal dysplasia Abnormal vitreous humor morphology Short philtrum Abnormal cerebellum morphology Delayed skeletal maturation Nephrogenic diabetes insipidus Sparse axillary hair Sparse pubic hair Labial hypoplasia Elevated circulating follicle stimulating hormone level Patellar aplasia Menstrual irregularities Aplasia of the uterus Elevated circulating luteinizing hormone level Pseudohypoparathyroidism Perineal hypospadias Dimple chin Abnormality of the urethra Abnormality of the ureter Penoscrotal hypospadias Abnormal external genitalia Female external genitalia in individual with 46,XY karyotype Absent facial hair Blind vagina Penoscrotal transposition Incomplete male pseudohermaphroditism Scrotal hypospadias Peripheral neuropathy Frontal bossing Abnormality of the skeletal system Male pseudohermaphroditism Prominent occiput Underdeveloped nasal alae Clinodactyly of the 5th finger Hypotelorism Short palpebral fissure Thick lower lip vermilion Postnatal microcephaly Stereotypy Self-injurious behavior Obsessive-compulsive behavior Neoplasm Obesity Hypospadias Inguinal hernia Cerebral cortical atrophy Diabetes insipidus Micropenis Wide intermamillary distance Renal agenesis Ambiguous genitalia Primary amenorrhea Abnormality of the genital system Renal dysplasia Gynecomastia Bilateral single transverse palmar creases Growth abnormality Bifid scrotum Slender nose


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