Micrognathia, and Hypotelorism

Diseases related with Micrognathia and Hypotelorism

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

High 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

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


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

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Other less relevant matches:

High match CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY


Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY Is also known as cdg syndrome type iu|carbohydrate deficient glycoprotein syndrome type iu|congenital disorder of glycosylation type 1u|congenital disorder of glycosylation type iu|cdg1u|dpm2-cdg|cdg-iu|cdg iu|cdgiu|cmd with intellectual disability and severe epilepsy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY

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 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 ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

High match MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

High match SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME


Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Hypotelorism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Microcephaly Global developmental delay Failure to thrive Hypoplasia of the maxilla Hypertelorism Generalized hypotonia Downslanted palpebral fissures Agenesis of corpus callosum Retrognathia Epicanthus Short stature Flexion contracture Proptosis Broad forehead Hearing impairment Osteopenia Intrauterine growth retardation Gait disturbance Deeply set eye Bulbous nose Autism

Rare Symptoms - Less than 30% cases


Narrow forehead Strabismus Wide nasal bridge Cachexia Slender long bone Postnatal microcephaly Obsessive-compulsive behavior Stereotypy Short palpebral fissure Short philtrum Joint laxity Hip dislocation Gait ataxia Frontal bossing Sparse hair Brachycephaly Abnormality of the skeletal system Osteoporosis Prominent forehead Midface retrusion Malar flattening Recurrent fractures Triangular face Scaphocephaly Growth delay Growth abnormality Rhizomelia Cryptorchidism Respiratory insufficiency Microphthalmia Ataxia Astigmatism Hyperactivity Gastroesophageal reflux Talipes equinovarus Narrow mouth Atresia of the external auditory canal Small for gestational age Low-set ears Autistic behavior Respiratory distress Cleft palate Thick lower lip vermilion Polyhydramnios Conductive hearing impairment Thin vermilion border Carpal osteolysis Delayed skeletal maturation Alopecia Metatarsal osteolysis Delayed ossification of pubic rami Hyperkeratosis Prominent nasal bridge Kyphoscoliosis Dislocated radial head Metacarpal osteolysis Hypermetropia Scarring Edema Limitation of joint mobility Brachydactyly Bowing of the long bones Joint hypermobility Proximal placement of thumb Talipes Anteverted nares Osteolysis involving tarsal bones Wrist swelling Preauricular pit Blue sclerae Large fontanelles Sensorineural hearing impairment Congenital hip dislocation Cutis laxa Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Abnormality of the skin Delayed eruption of teeth Thin skin Fine hair Camptodactyly of finger Rheumatoid arthritis Pes cavus Arthralgia Arthritis Elevated alkaline phosphatase Osteolysis Proteinuria Telecanthus Retinopathy EMG abnormality Hypertension Hypoplastic ilia Corneal opacity Abnormality of epiphysis morphology Hypoplastic scapulae Interphalangeal joint contracture of finger Short humerus Pulmonic stenosis Stage 5 chronic kidney disease Downturned corners of mouth Renal insufficiency Thin calvarium Nephropathy Prematurely aged appearance Wormian bones Doll-like facies Dermal atrophy Pterygium Flat occiput Delayed cranial suture closure Long nose Lipoatrophy Ankle swelling Hypertensive retinopathy Narrow philtrum Azotemia Ulnar deviation of the hand or of fingers of the hand Striae distensae Ulnar deviation of the hand Juvenile rheumatoid arthritis Narrow nose Abnormality of the genitourinary system Osteolytic defects of the phalanges of the hand Increased thyroid-stimulating hormone level Abnormality of the wrist Shallow orbits Low posterior hairline Protruding ear Synotia Microglossia Stenosis of the external auditory canal Hyperplasia of the maxilla Mandibular aplasia Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Aglossia Spasticity Transposition of the great arteries Hypertonia Behavioral abnormality Absent speech Constipation Pes planus Anxiety Aggressive behavior Developmental regression Hyperlordosis Tracheomalacia Abnormality of the outer ear Attention deficit hyperactivity disorder Hallux valgus Delayed speech and language development Intellectual disability, severe Cerebral cortical atrophy Macrotia Abnormality of the pinna Severe global developmental delay Febrile seizures Eczema Failure to thrive in infancy Thickened helices Holoprosencephaly Small earlobe Atrial septal defect Abnormal heart morphology Posteriorly rotated ears Abnormality of the eye Anal atresia Pulmonary hypoplasia Intestinal malrotation Situs inversus totalis Wide mouth Pectus carinatum Postnatal growth retardation Micropenis Long fingers Overweight Turricephaly Long foot Cataract Motor delay Myopia Ventricular septal defect Hypospadias Coxa valga Exotropia Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly Obstructive sleep apnea Broad femoral neck Ventriculomegaly Hydrocephalus Mandibular prognathia Large hands Sleep disturbance Thick vermilion border Generalized myoclonic seizures Abnormal cerebellum morphology Underdeveloped nasal alae Self-injurious behavior Optic atrophy Short nose Elevated serum creatine phosphokinase Cerebellar hypoplasia Thin upper lip vermilion Respiratory tract infection Dental malocclusion Arachnodactyly Severe muscular hypotonia Trigonocephaly Congenital contracture Myopathic facies Primitive reflex Muscular hypotonia Macrocephaly Upslanted palpebral fissure Craniosynostosis Blepharophimosis Scapulohumeral synostosis



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