Abnormal facial shape, and Eczema

Diseases related with Abnormal facial shape and Eczema

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


Top matches:

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2


Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis, is a rare genetic disease that affects the skin and bones. PHO is characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin manifestations that include thickened facial skin, a thickened scalp, and coarse facial features (summary by Zhang et al., 2012).For a discussion of genetic heterogeneity of PHO, see PHOAR1 (OMIM ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2 Is also known as pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive

Related symptoms:

  • Abnormal facial shape
  • Patent ductus arteriosus
  • Hyperhidrosis
  • Arthralgia
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2

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

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 BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Low match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Low match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

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

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neutropenia Inflammatory abnormality of the skin Short stature Abnormal lung morphology Hearing impairment Microcephaly Midface retrusion Depressed nasal bridge Low-set ears Immunodeficiency Respiratory tract infection Coarse facial features Intellectual disability Seizures

Rare Symptoms - Less than 30% cases


Atopic dermatitis Dry skin Ichthyosis Polymicrogyria Hemolytic anemia Cerebellar vermis hypoplasia Lymphopenia Recurrent skin infections Myelodysplasia Erythroderma Autoimmune hemolytic anemia Neoplasm Osteosarcoma Abnormality of the dentition Prominent nasal bridge Patent ductus arteriosus Abnormal heart morphology Skin rash Increased antibody level in blood Postnatal growth retardation Recurrent otitis media Otitis media Hyperkeratosis Asthma Palmoplantar keratoderma Cataract Respiratory failure Arthralgia Osteolytic defects of the phalanges of the hand Seborrheic dermatitis Folliculitis Periostosis Subperiosteal bone formation Clubbing Redundant skin Pneumonia Muscular hypotonia of the trunk Thickened skin Feeding difficulties Hyperhidrosis Growth delay Highly arched eyebrow Osteoporosis Osteopenia Poikiloderma Hypospadias Absent speech Blepharitis Behavioral abnormality Arthritis Hypoplasia of the corpus callosum Erythema Wheezing Limitation of joint mobility Large fontanelles Wormian bones Palmoplantar hyperkeratosis Anteverted nares Delayed skeletal maturation Pectus excavatum Open mouth Abnormality of the pinna Stereotypy Long palpebral fissure Low hanging columella Enlarged cisterna magna Dilation of lateral ventricles Dilated fourth ventricle Cerebellar dysplasia Feeding difficulties in infancy High palate Dysgenesis of the cerebellar vermis Acne Cleft palate Pain Ptosis Flexion contracture Cerebellar hypoplasia Patent foramen ovale Growth hormone excess Disproportionate tall stature Oligodontia Hypertrichosis Carious teeth Cutis laxa Nail dystrophy Cough Mandibular prognathia Recurrent respiratory infections Alopecia Malar flattening Recurrent pneumonia Optic nerve hypoplasia Short nose Splenomegaly Abnormality of coagulation Frontal bossing Reduced antithrombin III activity Anterior pituitary hypoplasia Type I transferrin isoform profile Cutaneous photosensitivity Macrocephaly Thickened calvaria Wide cranial sutures Arthropathy Microcytic anemia Joint swelling Heart block Flushing Clubbing of fingers Long clavicles Atrophic scars Hip pain Abnormality of skin pigmentation Eczematoid dermatitis Nystagmus Motor delay Cerebellar atrophy Visual loss Brachycephaly Conjunctivitis Elevated hepatic transaminase Coloboma Ventriculomegaly Intellectual disability, severe Visual impairment Gingival overgrowth Abnormal intestine morphology Severe intrauterine growth retardation Protein-losing enteropathy Erythroid dysplasia Abnormality of the skeletal system Cardiomyopathy Thrombocytopenia Choanal atresia Rhizomelia Lymphadenopathy Leukopenia Recurrent upper respiratory tract infections Neurodevelopmental delay Upper limb undergrowth Agammaglobulinemia Noncompaction cardiomyopathy Sinusitis Meningitis Recurrent bacterial infections Bronchiectasis Hypothyroidism Hemiplegia Chromosome breakage Large hands Hyperostosis Elevated erythrocyte sedimentation rate Cutis gyrata of scalp Failure to thrive Wide anterior fontanel Failure to thrive in infancy Emphysema Mild global developmental delay Glaucoma Prominent superficial veins Bronchiolitis Dermal translucency Abnormality of the thymus Increased sensitivity to ionizing radiation Bronchiolitis obliterans Intrauterine growth retardation Blindness Diarrhea Eosinophilia Osteomyelitis Muscular hypotonia Underdeveloped nasal alae Blepharophimosis Short philtrum Small for gestational age Synophrys Smooth philtrum Long face Thick eyebrow Prominent nose Esotropia Telecanthus Hypotelorism Broad-based gait Progressive microcephaly Narrow face Short chin Brisk reflexes Thick upper lip vermilion Achilles tendon contracture Sensorineural hearing impairment Sparse hair Pes cavus Combined immunodeficiency Cerebral vasculitis Pericarditis Recurrent sinusitis Subarachnoid hemorrhage Recurrent lower respiratory tract infections Esophagitis Recurrent viral infections Recurrent sinopulmonary infections Recurrent fungal infections Recurrent upper and lower respiratory tract infections Elevated serum creatine phosphokinase Anaphylactic shock Strabismus Spasticity Delayed speech and language development Hyperreflexia Dysarthria Wide nasal bridge Myopathy Hypertonia Subungual hyperkeratosis



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