Micrognathia, and Small for gestational age

Diseases related with Micrognathia and Small for gestational age

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


Top matches:

High match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

High match SECKEL SYNDROME 2; SCKL2


Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

SECKEL SYNDROME 2; SCKL2 Is also known as microcephalic primordial dwarfism 2|seckel-type dwarfism 2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 2; SCKL2

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

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Other less relevant matches:

High match BOWEN-CONRADI SYNDROME


Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

High match CONGENITAL TUFTING ENTEROPATHY


Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


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

High match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

High match MICROCEPHALY-MICROMELIA SYNDROME; MIMIS


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

High match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY


Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Micrognathia and Small for gestational age

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Micrognathia and Small for gestational age. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Seizures Low-set ears Generalized hypotonia Abnormal facial shape Short palpebral fissure Agenesis of corpus callosum Hypertelorism Narrow forehead Clinodactyly of the 5th finger Hyperactivity Motor delay Ventriculomegaly Severe global developmental delay Cortical gyral simplification Sloping forehead

Rare Symptoms - Less than 30% cases


Hypotelorism Prominent forehead Clinodactyly Cryptorchidism Respiratory failure Feeding difficulties Delayed speech and language development Intellectual disability, severe Abnormality of the pinna Long nose Talipes equinovarus Bulbous nose Severe postnatal growth retardation Severe intrauterine growth retardation Convex nasal ridge Epicanthus Deeply set eye Blepharophimosis High palate Wide nose Craniosynostosis Short philtrum Cafe-au-lait spot Spasticity Prominent nose Protruding ear Cleft palate Microphthalmia Low posterior hairline Congenital diaphragmatic hernia Thin vermilion border Asthma Ambiguous genitalia Smooth philtrum Decreased fetal movement Prominent nasal tip Hypertrichosis Abnormal lung morphology Pachygyria Long face Recurrent urinary tract infections Muscular hypotonia of the trunk Telecanthus Neurological speech impairment Highly arched eyebrow Downturned corners of mouth Absence seizures Bruxism Prominent metopic ridge Ventricular septal defect Partial agenesis of the corpus callosum Widely spaced teeth Respiratory distress Microretrognathia Wide intermamillary distance Abnormal cardiac septum morphology Round face Atrial septal defect Immunodeficiency Bifid uvula Hernia Recurrent respiratory infections Narrow face Polyhydramnios Long upper lip Oligohydramnios Multicystic kidney dysplasia Bilateral sensorineural hearing impairment Delayed skeletal maturation Severe short stature Osteoporosis Hypogonadism Osteopenia Hypoglycemia Postnatal growth retardation Attention deficit hyperactivity disorder Single transverse palmar crease Delayed eruption of teeth Decreased body weight Intellectual disability, mild Insulin resistance Low anterior hairline Radial deviation of finger Congenital sensorineural hearing impairment Truncal obesity Abnormality of the mouth Short attention span Concave nasal ridge Neonatal hyperbilirubinemia Prelingual sensorineural hearing impairment Small placenta Abnormality of metabolism/homeostasis Behavioral abnormality Clitoral hypertrophy Aplasia/Hypoplasia of the corpus callosum Scaphocephaly Recurrent lower respiratory tract infections Chronic lung disease Pulmonary artery hypoplasia Abnormality of the skeletal system Short neck Narrow mouth Narrow chest Talipes Micromelia Limb undergrowth Abnormality of the hand Myopia Absent thumb Cystic hygroma Oligodactyly Absent radius Short tibia Humeroradial synostosis Forearm undergrowth Aplasia of the ulna Hearing impairment Sensorineural hearing impairment Ptosis Thin upper lip vermilion Sparse hair Absent speech Thick lower lip vermilion Few cafe-au-lait spots Ataxia Gait disturbance Cerebral cortical atrophy Autism Macrotia Autistic behavior Febrile seizures Eczema Failure to thrive in infancy Microglossia Hallux valgus Thickened helices Small earlobe Abnormality of cardiovascular system morphology Camptodactyly Feeding difficulties in infancy Joint stiffness Camptodactyly of finger Abnormality of the foot Mild global developmental delay High pitched voice Interphalangeal joint contracture of finger Delayed myelination Cataract Flexion contracture Cerebellar atrophy Cerebral atrophy Prominent nasal bridge Arthrogryposis multiplex congenita Abnormal cerebellum morphology Gliosis Brain atrophy Neuronal loss in central nervous system Ectopic kidney Choanal atresia Profound global developmental delay Small cerebral cortex Abnormality of the cerebrum Abnormality of the cerebral cortex Abnormal neuron morphology Hypospadias Cerebellar hypoplasia Microdontia Heart murmur Oral cleft Finger clinodactyly Long philtrum Exotropia Frontal bossing Upslanted palpebral fissure Brachycephaly Proptosis Broad forehead Astigmatism Arachnodactyly Sleep disturbance Stereotypy Obsessive-compulsive behavior Wide nasal bridge Large hands Long fingers Overweight Turricephaly Long foot Depressed nasal bridge Hypoplasia of the corpus callosum Dystonia Short nose Macrocephaly Muscular hypotonia Short chin Abdominal distention Rocker bottom foot Abnormal joint morphology Abnormal lung lobation Diarrhea Midface retrusion Posteriorly rotated ears Arthritis Coloboma Anal atresia Sepsis Strabismus Abnormal intestine morphology Celiac disease Underdeveloped supraorbital ridges Choanal stenosis Villous atrophy Trichorrhexis nodosa Intractable diarrhea Secretory diarrhea Vaginal fistula Scoliosis Congenital bilateral ptosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Atherosclerosis, related diseases and genetic alterations Ventricular septal defect and Intrauterine growth retardation, related diseases and genetic alterations Intellectual disability, severe and Autism, related diseases and genetic alterations Hydrocephalus and Facial palsy, related diseases and genetic alterations Cleft palate and Micropenis, related diseases and genetic alterations

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