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

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

High match AL-RAQAD SYNDROME; ARS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS OMIM MONDO

More info about AL-RAQAD SYNDROME; ARS

High match SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Microcephaly
  • Strabismus


SOURCES: OMIM UMLS MESH MONDO

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

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS DOID MONDO OMIM GARD

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

High match MEIER-GORLIN SYNDROME 4; MGORS4

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: MONDO UMLS OMIM

More info about MEIER-GORLIN SYNDROME 4; MGORS4

High match INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB

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.

INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB Is also known as ;congenital ilneb syndrome; congenital nep syndrome; congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome; congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome; congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome; jeb with respiratory and renal involvement; jeb-rr

Related symptoms:

  • Autosomal recessive inheritance
  • Microcephaly
  • Hypertelorism
  • Fever
  • Renal insufficiency


SOURCES: MONDO OMIM UMLS ORPHANET

More info about INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB

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:

  • Autosomal recessive inheritance
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: UMLS MONDO MESH OMIM

More info about MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

High match ALAZAMI-YUAN SYNDROME; ALYUS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM MONDO

More info about ALAZAMI-YUAN SYNDROME; ALYUS

High match MEIER-GORLIN SYNDROME 2; MGORS2

Related symptoms:

  • Autosomal recessive inheritance
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Failure to thrive


SOURCES: OMIM MONDO UMLS

More info about MEIER-GORLIN SYNDROME 2; MGORS2

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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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


Thin upper lip vermilion Abnormal facial shape Micrognathia Generalized hypotonia Wide nasal bridge Strabismus Delayed skeletal maturation Intrauterine growth retardation Atrial septal defect Hypertelorism Growth delay Delayed speech and language development Narrow chest Cryptorchidism

Rare Symptoms - Less than 30% cases


Autosomal dominant inheritance Camptodactyly Joint hypermobility Hyperactivity Agenesis of corpus callosum Absent thumb Failure to thrive Spasticity Prominent nasal bridge Microtia Gastroesophageal reflux Poor speech Oligodactyly Talipes equinovarus Underdeveloped nasal alae Breast hypoplasia Emphysema Slender long bone Cleft palate Hypoplastic labia majora Patellar aplasia Low-set ears Labial hypoplasia Birth length less than 3rd percentile Absent speech Round face Tubular atrophy Onycholysis Decreased glomerular filtration rate Nephrotic syndrome Crossed fused renal ectopia Nail dystrophy Interstitial pulmonary abnormality Respiratory acidosis Junctional split Short neck Fragile skin Glomerulosclerosis Focal segmental glomerulosclerosis Recurrent pneumonia Abnormal blistering of the skin Gynecomastia Sparse scalp hair Ectopic kidney Hypoalbuminemia Neonatal respiratory distress Sparse eyelashes Abnormal lung morphology Skin vesicle Fine hair Sparse and thin eyebrow Cyanosis Short palpebral fissure Abnormality of the skeletal system Unilateral cryptorchidism Hirsutism Wide intermamillary distance Prominent nose Dental crowding Low anterior hairline Long eyelashes Broad hallux Short columella Curly eyelashes Single transverse palmar crease Abnormality of the pinna Postnatal growth retardation Dolichocephaly Smooth philtrum Clitoral hypertrophy High pitched voice Tracheomalacia Aplasia/Hypoplasia of the patella Highly arched eyebrow Thick eyebrow Microphthalmia Proteinuria Polyhydramnios Respiratory failure Craniosynostosis Small for gestational age Micromelia Talipes Convex nasal ridge Oligohydramnios Limb undergrowth Synophrys Aplasia/Hypoplasia of the corpus callosum Abnormality of the hand Cystic hygroma Humeroradial synostosis Forearm undergrowth Aplasia of the ulna High palate Long philtrum Neonatal hypotonia Respiratory tract infection Patent ductus arteriosus Macrotia Short tibia Micropenis Thin vermilion border Hypoplasia of the radius Hypoplasia of the ulna Aplasia/Hypoplasia of the radius Fibular hypoplasia Short femur Hyperplasia of the maxilla Patellar hypoplasia Supernumerary ribs Bilateral ulnar hypoplasia Seizures Muscle weakness Infantile onset Anteverted nares Intellectual disability, severe Sandal gap Dystonia Brachydactyly Malar flattening Bulbous nose Arachnodactyly Death in infancy Cupped ear Motor delay Short nose Inability to walk Congenital onset Joint laxity Deeply set eye Abnormal cardiac septum morphology Flat face Unsteady gait Hypopigmentation of the skin Hypoplasia of the corpus callosum Cerebral atrophy Prominent forehead Thoracic scoliosis Periventricular leukomalacia Small cerebral cortex Aplasia of the inferior half of the cerebellar vermis Scoliosis Hypoplasia of the maxilla Thick lower lip vermilion Genu recurvatum Short philtrum Lateral clavicle hook Fever Renal insufficiency Respiratory distress Pneumonia Recurrent respiratory infections Erythema Mild microcephaly Abnormal heart morphology Hernia Short chin Constipation High forehead Umbilical hernia Anxiety Autistic behavior Tapered finger Hip dysplasia Impulsivity Clinodactyly Pica Ptosis Epicanthus Ventricular septal defect Abnormality of cardiovascular system morphology Upslanted palpebral fissure Posteriorly rotated ears Bronchomalacia



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Other signs and symptoms that you may find interesting

Fever and Pulmonary arterial hypertension, related diseases and genetic alterations Ptosis and Midface retrusion, related diseases and genetic alterations Pain and Tachycardia, related diseases and genetic alterations Flexion contracture and Dysarthria, related diseases and genetic alterations Cryptorchidism and Lymphopenia, related diseases and genetic alterations Leukemia and Behavioral abnormality, related diseases and genetic alterations