Abnormal facial shape, and Psoriasiform dermatitis

Diseases related with Abnormal facial shape and Psoriasiform dermatitis

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


Top matches:

Medium match IMMUNODEFICIENCY 49; IMD49


IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Medium 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

Medium match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

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Other less relevant matches:

Medium match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Medium match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Medium match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Medium match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match PUSTULOSIS PALMARIS ET PLANTARIS


PUSTULOSIS PALMARIS ET PLANTARIS Is also known as localized pustular psoriasis|lpp|ppp|palmoplantar pustulosis

Related symptoms:

  • Pain
  • Pruritus
  • Psoriasiform dermatitis
  • Pustule


SOURCES: ORPHANET MENDELIAN

More info about PUSTULOSIS PALMARIS ET PLANTARIS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Psoriasiform dermatitis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Hypothyroidism Ventricular septal defect Patent ductus arteriosus Short stature Ptosis Hearing impairment Hepatomegaly Umbilical hernia Generalized hypotonia Hypertelorism Micrognathia Posteriorly rotated ears Immunodeficiency Splenomegaly Cutaneous photosensitivity Primary amenorrhea Cleft palate Amenorrhea Low posterior hairline Inguinal hernia Abnormality of the kidney Abnormal heart morphology Seizures Hydrocephalus High palate Fever Obesity Atrial septal defect Growth delay Hernia Microcephaly

Rare Symptoms - Less than 30% cases


Cryptorchidism Duodenal stenosis Impaired T cell function Right aortic arch Abnormality of the middle ear Perimembranous ventricular septal defect Interrupted aortic arch Scoliosis Graves disease Conotruncal defect Aplasia of the uterus Cognitive impairment Narrow mouth Short neck Hypoplasia of the corpus callosum Upslanted palpebral fissure Retinal vascular tortuosity Increased antibody level in blood Elevated erythrocyte sedimentation rate Hyperkeratosis Genu valgum Cardiomegaly Osteolysis Acne Hirsutism Intellectual disability, severe Intellectual disability, mild Proptosis Juvenile rheumatoid arthritis Hepatosplenomegaly Pruritus Short philtrum Flexion contracture Sacral meningocele Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Seborrheic dermatitis Abnormality of cardiovascular system morphology Behavioral abnormality Purpura Posterior embryotoxon Abnormality of the dentition Renal dysplasia Autoimmune thrombocytopenia Spina bifida Hypocalcemia Autoimmune hemolytic anemia Bipolar affective disorder Bicuspid aortic valve Arnold-Chiari malformation Schizophrenia Nasal speech Cholelithiasis Rheumatoid arthritis Inflammation of the large intestine Tetralogy of Fallot Absent speech Recurrent respiratory infections Autoimmunity Retrognathia Conductive hearing impairment Arthritis Myelomeningocele Truncus arteriosus Abnormality of the pinna Blepharophimosis Meningocele Specific learning disability Bulbous nose Hemolytic anemia Bifid uvula Chorea Hypoparathyroidism Vitiligo Renal agenesis Carious teeth Unilateral renal agenesis Telangiectasia Lymphadenopathy Overgrowth Malabsorption Erythema Telecanthus Low anterior hairline Hypospadias Apnea Short palpebral fissure Enlarged kidney Severe combined immunodeficiency Leukocytosis Strabismus Inflammatory abnormality of the skin Wide nasal bridge Epicanthus Myopathic facies Muscular hypotonia Episodic fever Polycythemia Severe sensorineural hearing impairment Decreased testicular size Exocrine pancreatic insufficiency Aspiration pneumonia Varicose veins Communicating hydrocephalus Decreased serum testosterone level Recurrent pharyngitis Abnormal eyebrow morphology Lipoatrophy Platybasia Stridor Vascular ring Central nervous system degeneration Azoospermia Sleep apnea Lipodystrophy Psychotic episodes Velopharyngeal insufficiency Mood swings Giant platelets Hyperglycemia Paranoia Hallux valgus Microcytic anemia Scleroderma Pulmonary artery atresia Pierre-Robin sequence Abnormality of the endocrine system Upper eyelid edema Stiff skin Anal stenosis Cervical lymphadenopathy Submucous cleft hard palate Axonal loss Bilateral camptodactyly Retroperitoneal fibrosis Episcleritis Seborrheic keratosis Basal ganglia calcification Pain Pustule Abnormality of the ear Hypoplasia of the brainstem Snoring Panniculitis Echolalia Abnormality of cardiovascular system physiology Nasal obstruction Skin nodule Histiocytosis Reticulocytopenia Congenital conductive hearing impairment Chronic rhinitis Pancreatic hypoplasia Facial telangiectasia Delusions Broad finger Hyperplasia of the maxilla Hearing abnormality Corneal arcus Generalized lymphadenopathy Myelofibrosis Perineal fistula Plagiocephaly Wide intermamillary distance Clinodactyly Diabetes mellitus Epistaxis Hypogonadism Severe short stature Pneumonia Alopecia Delayed skeletal maturation Edema Dyspnea Anteverted nares Ventriculomegaly Frontal bossing Brachydactyly Hyperreflexia Sensorineural hearing impairment Failure to thrive Type I truncus arteriosus Micropenis Pes planus Parathyroid hypoplasia Ichthyosis Growth hormone deficiency Full cheeks Recurrent fractures Polyneuropathy Mitral valve prolapse Flat face Cleft upper lip Abnormality of the foot Low-set, posteriorly rotated ears Delayed puberty Hypotrichosis Pectus carinatum Retinopathy Bilateral sensorineural hearing impairment Epidermal acanthosis Abnormal cardiac septum morphology Camptodactyly Parathyroid agenesis Decreased circulating parathyroid hormone level Type I diabetes mellitus Cleft lip Polymicrogyria Astigmatism Generalized tonic-clonic seizures Aspiration Microtia Attention deficit hyperactivity disorder Craniosynostosis Hydronephrosis Iris coloboma Microphthalmia Hypertonia Hypergonadotropic hypogonadism Elbow flexion contracture Low-set ears Neoplasm Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Gynecomastia Hyperpigmentation of the skin Blue sclerae Anterior segment developmental abnormality Esophoria Vascular tortuosity Abnormality of the thymus Perisylvian polymicrogyria Alcoholism Hypertriglyceridemia Femoral hernia Hypoplasia of the thymus Hypertrichosis Gingival overgrowth Tetany Sclerocornea Bronchiectasis Exotropia Amblyopia Broad thumb Coarctation of aorta High, narrow palate Accommodative esotropia Pulmonic stenosis Obsessive-compulsive behavior Spastic tetraplegia Congestive heart failure Talipes equinovarus Skeletal muscle atrophy Myopia Hypertension Prominent nose Narrow forehead Muscle weakness Postauricular pit Arrhythmia Auricular pit Prune belly Embryonal neoplasm Anterior creases of earlobe Abdominal wall defect Tethered cord Abnormality of earlobe Visceromegaly Visual loss Pes cavus Diastasis recti Waddling gait High anterior hairline Periodontitis Heart block Epiphora Scaling skin Coxa valga Aortic valve stenosis Decreased body weight Generalized muscle weakness Osteoporosis Hypoplasia of the maxilla Smooth philtrum Hip dislocation Broad forehead Joint laxity Thin upper lip vermilion Osteopenia Glaucoma Hemihypertrophy Skin tags Onycholysis Hypoplasia of penis Abnormality of chromosome stability Acute leukemia Biparietal narrowing Telangiectasia of the skin Combined immunodeficiency Myelodysplasia Type II diabetes mellitus Pancytopenia Lymphoma Bird-like facies Thin vermilion border Leukemia Abnormality of the nervous system Natal tooth Brachycephaly Clinodactyly of the 5th finger Pulmonary artery stenosis Abnormality of the skeletal system Abnormality of bone marrow cell morphology Large beaked nose Abnormality of the vasculature Abnormality of the face Neonatal hypoglycemia Nevus flammeus Central hypotonia Syringomyelia Neuroblastoma Supernumerary nipple Large for gestational age Abnormality of the outer ear Omphalocele Eosinophilia Premature birth Macroglossia Renal cyst Hypoglycemia Coarse facial features Polydactyly Lymphopenia Wormian bones Leukopenia Osteolytic defects of the phalanges of the hand Subvalvular aortic stenosis Apathy Hypoplasia of the zygomatic bone Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis White forelock Concave nasal ridge Chronic lung disease Prolonged neonatal jaundice Agenesis of corpus callosum Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Petechiae Osteomyelitis Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Cataract Cerebellar atrophy Recurrent pneumonia Peripheral demyelination Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Open mouth Psychosis Underdeveloped nasal alae Depressivity Vesicoureteral reflux Dysmetria Anal atresia Congenital cataract Mental deterioration Aggressive behavior Anxiety Hyperactivity Dementia Generalized hirsutism Bilateral single transverse palmar creases Muscle fiber atrophy Aortic arch calcification Downslanted palpebral fissures Depressed nasal bridge Visual impairment Tetraplegia Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Hypoplasia of the tooth germ Diarrhea Tendon rupture Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Premature loss of permanent teeth Mitral valve calcification Hip subluxation Aortic valve calcification Shallow acetabular fossae Vomiting Short nose Skin ulcer Asthma Lymphedema Abnormality of retinal pigmentation Abnormal lung morphology Thin skin Depressed nasal ridge Hepatitis Dehydration Convex nasal ridge Palmoplantar keratoderma Malar flattening Dry skin Arachnodactyly Papule Skin rash Elevated hepatic transaminase High forehead Prominent forehead Severe global developmental delay Abnormality of metabolism/homeostasis Nail dystrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Nephrotic syndrome, related diseases and genetic alterations Arthritis and Microdontia, related diseases and genetic alterations Rod-cone dystrophy and Severe global developmental delay, related diseases and genetic alterations Congestive heart failure and Webbed neck, related diseases and genetic alterations Micrognathia and Hypermetropia, related diseases and genetic alterations Intellectual disability and Cleft upper lip, related diseases and genetic alterations

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