Abnormal facial shape, and Malabsorption

Diseases related with Abnormal facial shape and Malabsorption

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


Top matches:

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Low match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

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Other less relevant matches:

Low match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Low match INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE


INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

Low match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Low match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Low match PACHYDERMOPERIOSTOSIS


Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

PACHYDERMOPERIOSTOSIS Is also known as touraine-solente-gole syndrome|pdp

Related symptoms:

  • Scoliosis
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about PACHYDERMOPERIOSTOSIS

Low match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Low match ASPARTYLGLUCOSAMINURIA


Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

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

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Growth delay Generalized hypotonia Delayed speech and language development Osteoporosis Muscular hypotonia Macrocephaly Hypothyroidism Steatorrhea Hyporeflexia Wide nasal bridge Immunodeficiency Coarse facial features

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Gingival overgrowth Ataxia Thickened skin Joint stiffness Short nose Flat face Malar flattening Abnormal cortical bone morphology Arthritis Telangiectasia of the skin Recurrent infections Anemia Recurrent respiratory infections Abnormality of bone marrow cell morphology Abnormality of chromosome stability Umbilical hernia Combined immunodeficiency Macroglossia Abnormality of the skeletal system Short stature Epicanthus Cryptorchidism Micrognathia Scoliosis Exocrine pancreatic insufficiency Shawl scrotum Brachycephaly Microcephaly Hearing impairment Mandibular prognathia Muscle weakness Cirrhosis Low-set ears Acidosis Diarrhea Chronic diarrhea Feeding difficulties Triangular face Carious teeth Arthralgia Hyperhidrosis Edema Posterior embryotoxon Thick vermilion border Ptosis Dyskinesia Sleep disturbance Abnormal vertebral morphology Small hand Gastrointestinal hemorrhage Palmoplantar keratoderma Limitation of joint mobility Thickened calvaria Abnormality of epiphysis morphology Bone pain Gynecomastia Neurological speech impairment Abnormality of the fingernails Osteolysis Neoplasm of the skin Cerebral palsy Genu varum Microtia Chronic otitis media Abnormality of neutrophils Abnormality of the ulna Bronchiectasis Pneumonia Abnormality of amino acid metabolism High forehead Anterior beaking of lumbar vertebrae Vascular skin abnormality Respiratory tract infection Neurodegeneration Large face Beaking of vertebral bodies Sepsis Decreased antibody level in blood Otitis media Sinusitis Impaired T cell function Lymphopenia Recurrent pneumonia Malnutrition Bronchitis Protruding tongue Agammaglobulinemia Communicating hydrocephalus Macroorchidism Chronic bronchitis Cellular immunodeficiency Decrease in T cell count Pectus carinatum Acne Joint swelling Pes planus Pigmentary retinopathy Retinopathy Stroke Broad forehead Pruritus Pulmonic stenosis Butterfly vertebrae Hepatic failure Hematuria Renal cyst Peripheral pulmonary artery stenosis Cholestatic liver disease Cyanosis Tetralogy of Fallot Scarring Wolff-Parkinson-White syndrome Coarctation of aorta Renal hypoplasia Pulmonary artery stenosis Poor coordination Cholestasis Renal dysplasia Increased body weight Pointed chin Rickets Heart murmur Long nose Abnormal cardiac septum morphology Dark urine Osteomyelitis Inguinal hernia Aseptic necrosis Renal tubular acidosis Growth hormone excess Neoplasm of the lung Delayed skeletal maturation Abnormal hair pattern Seborrheic dermatitis Peptic ulcer Abnormal hair quantity Eczematoid dermatitis Cutis gyrata of scalp Clubbing of toes Impaired temperature sensation Abnormality of the liver Cognitive impairment Hypertension Ventricular septal defect Atrial septal defect Behavioral abnormality Abnormality of the dentition Renal insufficiency Patent ductus arteriosus Seizures Abnormal heart morphology Axenfeld anomaly Jaundice Proteinuria Hypospadias Erythema Anteverted nares Dysarthria Blue sclerae Exercise intolerance Ragged-red muscle fibers Glucose intolerance Exertional dyspnea Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Nystagmus Strabismus Cataract Visual impairment Areflexia Delayed myelination Rod-cone dystrophy Dry skin Retinal dystrophy Single transverse palmar crease Polyneuropathy Abnormal bleeding Depressed nasal ridge Decreased liver function Abnormal electroretinogram Hypocholesterolemia Esodeviation Very long chain fatty acid accumulation Brachydactyly Increased serum lactate Brain atrophy Severe short stature Short chin Frontal bossing Clinodactyly Posteriorly rotated ears Diabetes mellitus Respiratory failure Proptosis Camptodactyly Autoimmunity Dolichocephaly Asthma Hepatitis Abnormal lung morphology Type I diabetes mellitus Abnormal intestine morphology Lactic acidosis Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Spasticity Hyperreflexia Cardiomyopathy Myopathy Babinski sign Narrow mouth Dyspnea Poor speech Paresthesia Short neck Osteopenia Depressed nasal bridge Lymphoma Sensorimotor neuropathy Proximal placement of thumb Ankle contracture Pancreatic fibrosis Thrombocytopenia Clinodactyly of the 5th finger Upslanted palpebral fissure Abnormality of the nervous system Telecanthus Leukemia Lymphadenopathy Thin vermilion border Hypoplasia of penis Hepatic fibrosis Pancytopenia Type II diabetes mellitus Cutaneous photosensitivity Telangiectasia Low anterior hairline Myelodysplasia Psoriasiform dermatitis Leukocytosis Biparietal narrowing Severe combined immunodeficiency Acute leukemia Bird-like facies Large beaked nose Progressive microcephaly Exotropia Camptodactyly of finger Osteomalacia Micromelia Short palm Recurrent fractures Subcutaneous nodule Lymphedema Hyperpigmentation of the skin Skin ulcer Recurrent bacterial infections Polycystic ovaries Increased susceptibility to fractures Urticaria Abnormality of dental morphology Abnormality of the musculature Abnormality of the gastrointestinal tract Postnatal microcephaly Abnormality of the adrenal glands Aplasia/Hypoplasia of the thymus Flexion contracture Motor delay Peripheral neuropathy Talipes equinovarus Cerebellar atrophy Midface retrusion Thin upper lip vermilion Distal muscle weakness Hip dislocation Progressive cerebellar ataxia Decreased fetal movement Aspartylglucosaminuria



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