Abnormal facial shape, and Diarrhea

Diseases related with Abnormal facial shape and Diarrhea

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


Top matches:

Low match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Low match RAPADILINO SYNDROME


RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Cleft palate
  • High palate


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPADILINO SYNDROME

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

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Other less relevant matches:

Low match DIHYDROPYRIMIDINURIA


Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

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 SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME


Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

Low match INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME


Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Low match JUVENILE HYALINE FIBROMATOSIS


Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HYALINE FIBROMATOSIS

Low 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

Low match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY


Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Chronic diarrhea Uncommon - Between 30% and 50% cases
Intractable diarrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Seizures Recurrent infections Abnormal intestine morphology Growth delay Macrocephaly Immunodeficiency

Rare Symptoms - Less than 30% cases


Dry skin Short chin Poor speech Sepsis Strabismus Respiratory failure Hypothyroidism Neutropenia Lymphadenopathy Anal atresia Coarse facial features Posteriorly rotated ears Frontal bossing Intellectual disability High palate Talipes equinovarus Blepharophimosis Abnormal lung morphology Short stature Trichorrhexis nodosa Anemia Hepatomegaly Intrauterine growth retardation Small for gestational age Hepatitis Villous atrophy Cirrhosis Spasticity Congenital muscular torticollis Narrow forehead Stomatitis Open mouth Congenital hip dislocation Torticollis Tented upper lip vermilion Pyloric stenosis Facial hypotonia Increased head circumference Difficulty walking Neoplasm Pain Flexion contracture Skeletal muscle atrophy Respiratory distress Osteoporosis Heat intolerance Osteopenia Joint stiffness Recurrent aphthous stomatitis Overgrowth Abnormality of the face Hemolytic-uremic syndrome Pectus excavatum Hematuria Intestinal malrotation Status epilepticus Pyelonephritis Hemiparesis Broad-based gait Overlapping toe Hypoplastic philtrum Hip dislocation Myopia Downslanted palpebral fissures Ventriculomegaly Hydrocephalus Absent speech Hypoglycemia Pneumonia Deeply set eye Hypoplasia of the thymus Papule Subcutaneous nodule Muscular hypotonia Respiratory insufficiency due to muscle weakness Gowers sign Midface retrusion Ectodermal dysplasia Hyperactivity Arthritis Fever Encephalitis Coloboma Abdominal distention Anhidrosis Hypocalcemia Sloping forehead Long nose Celiac disease Underdeveloped supraorbital ridges Choanal stenosis Secretory diarrhea Vaginal fistula Muscle weakness Micrognathia Microcephaly Thrombocytopenia Elbow flexion contracture Thickened skin Gingival overgrowth Encephalopathy Progressive encephalopathy Myopathy Abnormality of the hair Skin ulcer Cardiac arrest Osteolysis Progressive flexion contractures Growth abnormality Aplasia/Hypoplasia of the skin Abnormality of the skull Severe failure to thrive Abnormality of the gastrointestinal tract Amelogenesis imperfecta Gingival fibromatosis Abnormal diaphysis morphology Episodic fever Proteinuria Proptosis Gastroesophageal reflux Glaucoma Aplasia/Hypoplasia of the radius Absent radius Patellar aplasia Patellar hypoplasia Aplasia/Hypoplasia of the patella Mottled pigmentation Slender nose Stiff interphalangeal joints Blindness Postnatal growth retardation Hypoplasia of the radius Respiratory tract infection Ichthyosis Hemolytic anemia Eczema Inflammatory abnormality of the skin Bronchiectasis Lymphopenia Recurrent skin infections Myelodysplasia Absent thumb Narrow palpebral fissure Autoimmune hemolytic anemia Woolly hair Depressed nasal bridge Wide nasal bridge Prominent forehead Abnormality of the liver Sparse hair Wide nose Brittle hair Colitis Microcytic anemia Hypochromic microcytic anemia Joint dislocation Bloody diarrhea Chronic hepatitis Pili canaliculi Uncombable hair Decreased serum iron Hearing impairment Cleft palate Long face High, narrow palate Erythroderma Atopic dermatitis Constipation Type I diabetes mellitus Low-set ears Splenomegaly Clinodactyly Diabetes mellitus Camptodactyly Autoimmunity Dolichocephaly Malabsorption Asthma Relative macrocephaly Extrapyramidal dyskinesia Prominent occiput Chronic lung disease Interstitial pneumonitis Scoliosis Cryptorchidism Hypertension Tremor Abnormality of the skeletal system Ventricular septal defect Reduced dihydropyrimidine dehydrogenase activity Morphological abnormality of the pyramidal tract Severe intrauterine growth retardation Lethargy Osteosarcoma Protein-losing enteropathy Folliculitis Erythroid dysplasia Feeding difficulties Delayed speech and language development Acidosis Feeding difficulties in infancy Abnormal pyramidal sign Abnormality of the cerebral white matter Reduced consciousness/confusion Short distal phalanx of finger Dyskinesia Metabolic acidosis Brain atrophy Hip dysplasia Cholestasis Short phalanx of finger Plagiocephaly Infantile spasms Excessive daytime somnolence Protracted diarrhea



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Abnormality of movement, related diseases and genetic alterations Dysarthria and Abnormal heart morphology, related diseases and genetic alterations Fever and Renal cell carcinoma, related diseases and genetic alterations Brachydactyly and Psychosis, related diseases and genetic alterations Obesity and Coarse facial features, related diseases and genetic alterations Anemia and Abnormal pyramidal sign, related diseases and genetic alterations

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