Micrognathia, and Short palpebral fissure

Diseases related with Micrognathia and Short palpebral fissure

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

Top matches:

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Other less relevant matches:

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

Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

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

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Top 5 symptoms//phenotypes associated to Micrognathia and Short palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Micrognathia and Short palpebral fissure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Microcephaly Short philtrum Generalized hypotonia Epicanthus Narrow mouth Underdeveloped nasal alae Delayed speech and language development Cleft palate Low-set ears Agenesis of corpus callosum Growth delay Blepharophimosis Hernia Thin vermilion border Absent speech Cryptorchidism Spasticity Microphthalmia Brachycephaly Wide nose Failure to thrive Small for gestational age Wide nasal bridge Feeding difficulties Prominent nose Abnormality of the skeletal system Upslanted palpebral fissure

Rare Symptoms - Less than 30% cases

Dystonia Bifid uvula Pes planus Severe global developmental delay Bulbous nose Clinodactyly Sparse hair Long nose Hearing impairment Absent thumb Muscular hypotonia of the trunk Stereotypy Hypotelorism Broad nasal tip Small hand Thin upper lip vermilion Abnormality of the dentition Obsessive-compulsive behavior Hypoplasia of the maxilla Absent radius Myopia Narrow forehead High palate Ventricular septal defect Short nose Strabismus Scoliosis Craniosynostosis Cataract Frontal bossing Telecanthus Depressed nasal bridge Protruding ear Long philtrum Deeply set eye Postnatal microcephaly Posteriorly rotated ears Umbilical hernia Leukopenia Hirsutism Tetraplegia Spastic tetraplegia Immunodeficiency Eosinophilia Inflammatory abnormality of the skin Lymphopenia Wormian bones Microretrognathia Long upper lip Neurological speech impairment Overweight Turricephaly Long foot Motor delay Hypoplasia of the corpus callosum Intellectual disability, severe Prominent forehead Abnormality of the pinna Smooth philtrum Prominent nasal tip Downturned corners of mouth Highly arched eyebrow Round face Wide intermamillary distance Absence seizures Widely spaced teeth Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Psoriasiform dermatitis Respiratory failure Myopathic facies Macrodontia of permanent maxillary central incisor Short foot Delayed eruption of teeth Microcornea Triangular face Dental malocclusion Overgrowth Fine hair Sparse scalp hair Large fontanelles Dental crowding Abnormality of dental enamel Sparse eyelashes Delayed skeletal maturation Abnormality of dental morphology Hyperostosis Basal ganglia calcification Narrow nose Spinal cord compression Persistent pupillary membrane Mild global developmental delay Large earlobe Hypoplasia of teeth Broad long bones Cranial hyperostosis Toe syndactyly Syndactyly Natal tooth Oligohydramnios Severe combined immunodeficiency Pulmonary artery stenosis Intrauterine growth retardation Talipes equinovarus Short neck Cutaneous syndactyly of toes Narrow chest Talipes Micromelia Convex nasal ridge Limb undergrowth 4-5 finger syndactyly Downslanted palpebral fissures Aplasia/Hypoplasia of the corpus callosum Large hands Fifth finger distal phalanx clinodactyly Abnormality of the hand Cortical gyral simplification Cystic hygroma Oligodactyly Short tibia Humeroradial synostosis Forearm undergrowth Aplasia of the ulna Long fingers Anemia Exotropia Secundum atrial septal defect Preauricular skin tag Narrow palpebral fissure Abnormal palate morphology Abnormality of vision 2-3 toe syndactyly Mixed hearing impairment External ear malformation Eyelid coloboma Hypomimic face Unilateral cleft lip Choanal atresia Median cleft palate Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Hydrocephalus Retrognathia Pulmonary hypoplasia Chorea Congenital diaphragmatic hernia Renal dysplasia Renal hypoplasia Short chin Abnormality of metabolism/homeostasis Abnormality of the cerebral white matter Hypermetropia Sandal gap Overlapping toe Broad hallux Slender finger Sensorineural hearing impairment Atrial septal defect Malar flattening Inguinal hernia Cleft upper lip Mandibular prognathia Conductive hearing impairment Cleft lip Abnormality of the eye Feeding difficulties in infancy Coloboma Abnormal cardiac septum morphology Prominent nasal bridge Anal atresia Tetraparesis Spastic tetraparesis Low posterior hairline Squamous cell carcinoma Carcinoma Abnormality of the kidney Hypopigmentation of the skin Pancytopenia Cafe-au-lait spot Short thumb Bone marrow hypocellularity Horseshoe kidney Hypoplasia of the radius Vitiligo Self-injurious behavior Pelvic kidney Squamous cell carcinoma of the tongue Muscular hypotonia Macrocephaly Proptosis Broad forehead Astigmatism Arachnodactyly Sleep disturbance Thrombocytopenia Thick lower lip vermilion Anophthalmia Autism Bicornuate uterus Hypoplastic left atrium Ataxia Gait disturbance Hypertonia Behavioral abnormality Constipation Hyperactivity Gait ataxia Gastroesophageal reflux Abnormal cerebellum morphology Anxiety Aggressive behavior Joint laxity Developmental regression Hyperlordosis Autistic behavior Wide mouth Attention deficit hyperactivity disorder Pectus carinatum Thick vermilion border 2-4 toe cutaneous syndactyly


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