Abnormal facial shape, and Pneumonia

Diseases related with Abnormal facial shape and Pneumonia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Pneumonia that can help you solving undiagnosed cases.


Top matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY


Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Immunodeficiency
  • Delayed skeletal maturation
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Low match LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS


LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

Mendelian

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

Learn more

Other less relevant matches:

Low match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Low match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Low match SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50


Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

Low 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

Low match COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C


Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Pneumonia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Round face Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Pneumonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Intellectual disability Seizures Recurrent infections Short stature Wide nasal bridge Bulbous nose Growth delay Generalized hypotonia

Rare Symptoms - Less than 30% cases


Brachydactyly Ectopic kidney Abnormal lung morphology Mild global developmental delay Bronchiolitis Muscular hypotonia Inability to walk Spasticity Cardiomyopathy Intellectual disability, severe Ventriculomegaly Short foot Severe short stature Small hand Absent speech Coarse facial features Intellectual disability, progressive Respiratory tract infection Recurrent respiratory infections Recurrent pneumonia Anteverted nares High palate Fine hair Abnormality of metabolism/homeostasis Generalized myoclonic seizures Short metacarpal Short metatarsal Cone-shaped epiphysis Combined immunodeficiency Underdeveloped supraorbital ridges Lacrimal duct stenosis Abnormal blistering of the skin Thin lower lip vermilion Cerebral cortical atrophy Umbilical hernia Autism Anxiety Severe global developmental delay Otitis media Febrile seizures Recurrent otitis media Obsessive-compulsive behavior Leukocytosis Cellulitis Periodontitis Arthritis Osteopenia Sparse scalp hair Interstitial pulmonary abnormality Nephrotic syndrome Sparse and thin eyebrow Gynecomastia Sparse eyelashes Hypoalbuminemia Glomerulosclerosis Neonatal respiratory distress Focal segmental glomerulosclerosis Delayed skeletal maturation Fragile skin Short neck Cyanosis Tubular atrophy Onycholysis Decreased glomerular filtration rate Crossed fused renal ectopia Respiratory acidosis Junctional split Optic atrophy Abnormality of the skeletal system Widow's peak Echolalia Reduction of neutrophil motility Neutrophilia Muscle fiber atrophy Restrictive ventilatory defect Difficulty climbing stairs Difficulty running Progressive proximal muscle weakness Right ventricular hypertrophy Upper limb muscle weakness Achilles tendon contracture Left ventricular failure Restrictive deficit on pulmonary function testing Neck flexor weakness Tip-toe gait Increased variability in muscle fiber diameter Calf muscle pseudohypertrophy Muscle fiber necrosis Right ventricular dilatation Increased endomysial connective tissue Left ventricular systolic dysfunction Abnormal macrophage morphology EMG: myotonic runs EMG: positive sharp waves EMG: myotonic discharges Absent muscle fiber gamma sarcoglycan Calf muscle hypertrophy Skeletal muscle hypertrophy Abnormality of the integument Facial palsy Nail dystrophy Scoliosis Muscle weakness Flexion contracture Skeletal muscle atrophy Respiratory insufficiency Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Proximal muscle weakness Hyperlordosis Gowers sign Muscular dystrophy Unsteady gait Long face Macroglossia Waddling gait Lumbar hyperlordosis Broad-based gait Frequent falls Scapular winging EMG: myopathic abnormalities Limb-girdle muscular dystrophy Narrow chest Macrotia Erythema Hoarse voice Dyspnea Apnea Joint stiffness Mastoiditis Thick vermilion border Cheilitis Full cheeks Limb undergrowth Mitral regurgitation Thickened skin Sleep apnea Long philtrum Epiphyseal dysplasia Pulmonary artery stenosis Subglottic stenosis Gastritis Recurrent aphthous stomatitis Micrognathia Recurrent viral infections Intrauterine growth retardation Abnormality of the gastrointestinal tract Esophagitis Respiratory failure Low-set ears Agenesis of corpus callosum Short nose Retrognathia Decreased antibody level in blood Short chin Agammaglobulinemia Chronic bronchitis Failure to thrive Feeding difficulties Midface retrusion Muscular hypotonia of the trunk Eczema Wide anterior fontanel Hepatomegaly Failure to thrive in infancy Emphysema Chromosome breakage Prominent superficial veins Epicanthus Dermal translucency Abnormality of the thymus Increased sensitivity to ionizing radiation Bronchiolitis obliterans Motor delay Cerebellar hypoplasia Gingivitis Proteinuria Aspiration pneumonia Gliosis Narrow forehead Spastic tetraplegia Aspiration Inflammatory abnormality of the skin Cerebral palsy Drooling Infantile muscular hypotonia Adducted thumb Progressive spasticity Facial hypotonia Bronchiectasis Everted upper lip vermilion Pseudobulbar signs Wide nasal ridge Osteoporosis Fever Respiratory distress Renal insufficiency Prominent forehead Narrow mouth Everted lower lip vermilion Tetraplegia Paraplegia Craniosynostosis Hyperreflexia Clubbing Prominent nose Sloping forehead Mild short stature Cortical gyral simplification Partial agenesis of the corpus callosum Restrictive cardiomyopathy Metaphyseal sclerosis Ataxia Strabismus Talipes equinovarus Abnormality of the cerebral white matter Recurrent bacterial infections Hypoplasia of the corpus callosum Cerebellar atrophy Hypertonia Babinski sign Mandibular prognathia Meningitis Neonatal hypotonia Wide mouth Short philtrum Spastic paraplegia Reduced muscle fiber alpha sarcoglycan



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Talipes, related diseases and genetic alterations Intellectual disability, severe and Frontal bossing, related diseases and genetic alterations Optic atrophy and Jaundice, related diseases and genetic alterations Visual impairment and Gait ataxia, related diseases and genetic alterations Immunodeficiency and Cone/cone-rod dystrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more