Microcephaly, and Narrow mouth

Diseases related with Microcephaly and Narrow mouth

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


Top matches:

High match HAMEL CEREBRO-PALATO-CARDIAC SYNDROME


Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

High match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL


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

High match AL-RAQAD SYNDROME; ARS


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

High match SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Strabismus
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION

High match MEIER-GORLIN SYNDROME 4; MGORS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 4; MGORS4

High match COG1-CDG


COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

High match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Top 5 symptoms//phenotypes associated to Microcephaly and Narrow mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Microcephaly and Narrow mouth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Short stature Micrognathia Wide nasal bridge Seizures Growth delay Feeding difficulties Delayed speech and language development Strabismus Spasticity Epicanthus

Rare Symptoms - Less than 30% cases


Delayed skeletal maturation Sandal gap Posteriorly rotated ears Cryptorchidism Attention deficit hyperactivity disorder Anxiety Hyperactivity Delayed ability to walk Failure to thrive Muscular hypotonia Unsteady gait Absent speech Low-set ears Long philtrum Microtia Short palpebral fissure Hypermetropia Atrial septal defect Clinodactyly Upslanted palpebral fissure Myopia Prominent nose Renal insufficiency Myopathic facies Cleft palate Thin eyebrow Low-set, posteriorly rotated ears Fever Respiratory distress Pneumonia Oligodontia Intellectual disability, moderate Recurrent respiratory infections Prominent forehead Macrotia Proteinuria Respiratory tract infection Osteopenia Eosinophilia Narrow palpebral fissure Smooth philtrum Butterfly vertebrae Rhizomelia Progressive microcephaly Coxa valga Failure to thrive in infancy Vertebral segmentation defect Pierre-Robin sequence Enlarged cisterna magna Postnatal growth retardation Hypsarrhythmia Abnormal isoelectric focusing of serum transferrin Abnormality of the dentition Immunodeficiency Recurrent infections Hypodontia Erythema Microdontia Asthma Round face Nail dystrophy Telecanthus Crossed fused renal ectopia Respiratory acidosis Junctional split Ptosis Ventricular septal defect Abnormal heart morphology Agenesis of corpus callosum Camptodactyly Onycholysis Short philtrum Joint hypermobility Abnormality of digit Curly hair Mild microcephaly Periventricular leukomalacia Small cerebral cortex Decreased glomerular filtration rate Tubular atrophy Narrow chest Gynecomastia Abnormal blistering of the skin Cyanosis Nephrotic syndrome Fine hair Sparse scalp hair Abnormal lung morphology Sparse and thin eyebrow Recurrent pneumonia Fragile skin Sparse eyelashes Hypoalbuminemia Glomerulosclerosis Neonatal respiratory distress Focal segmental glomerulosclerosis Ectopic kidney Interstitial pulmonary abnormality Kyphoscoliosis Downslanted palpebral fissures Malar flattening Autism Anteverted nares Hypoplasia of the corpus callosum Behavioral abnormality Dystonia Cerebral atrophy Hernia Constipation High forehead Abnormality of the cerebral white matter Gastroesophageal reflux Umbilical hernia Autistic behavior Abnormality of the skeletal system Prominent nasal bridge Poor speech Wide nose Pes planus Muscle weakness Hip dysplasia Short nose Underdeveloped nasal alae Overlapping toe Broad hallux Slender finger Broad nasal tip Motor delay Brachydactyly Small hand Hyperplasia of the maxilla Deeply set eye Neonatal hypotonia Joint laxity Abnormal cardiac septum morphology Flat face Inability to walk Hypopigmentation of the skin Tapered finger Short chin Short neck Labial hypoplasia Thick lower lip vermilion Emphysema Slender long bone Thoracic scoliosis Genu recurvatum Hypoplastic labia majora Patellar aplasia Breast hypoplasia Bulbous nose Lateral clavicle hook Birth length less than 3rd percentile Arachnodactyly High palate Hypertension Postnatal microcephaly Talipes equinovarus Hypoplasia of the maxilla Patent ductus arteriosus Impulsivity Oligodactyly Intellectual disability, severe Cataract Micropenis Thin vermilion border Hypoplasia of the radius Hypoplasia of the ulna Absent thumb Fibular hypoplasia Intrauterine growth retardation Aplasia/Hypoplasia of the radius Short tibia Short femur Patellar hypoplasia Supernumerary ribs Bilateral ulnar hypoplasia Scoliosis Cupped ear Aplasia of the inferior half of the cerebellar vermis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Flexion contracture and Hyperreflexia, related diseases and genetic alterations Cardiomyopathy and Short neck, related diseases and genetic alterations Cryptorchidism and Lymphedema, related diseases and genetic alterations Cleft palate and Thin skin, related diseases and genetic alterations Leukemia and Immunodeficiency, related diseases and genetic alterations Generalized hypotonia and Cyanosis, related diseases and genetic alterations Generalized hypotonia and Sensorineural hearing impairment, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more