Abnormal facial shape, and Telangiectasia

Diseases related with Abnormal facial shape and Telangiectasia

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


Top matches:

Low match FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME


Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

Low match SCHÖPF-SCHULZ-PASSARGE SYNDROME


Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.

SCHÖPF-SCHULZ-PASSARGE SYNDROME Is also known as palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|eccrine tumors with ectodermal dysplasia|ssps|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypot

Related symptoms:

  • Neoplasm
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Carcinoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SCHÖPF-SCHULZ-PASSARGE SYNDROME

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

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Other less relevant matches:

Low match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Low match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

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 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS


Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

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 TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Low match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Telangiectasia of the skin Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Lymphedema Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Wide nasal bridge Wide mouth Failure to thrive Hyperkeratosis Intellectual disability Neoplasm Microcephaly Pancytopenia Growth delay Macrocephaly Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Subcutaneous nodule Micrognathia Thick vermilion border Dry skin Abnormality of the cerebral white matter Coarse facial features Thick lower lip vermilion Renal insufficiency Cryptorchidism Low-set ears Thin vermilion border Hearing impairment Erythema Hypothyroidism Proteinuria Telecanthus Stage 5 chronic kidney disease Thrombocytopenia Hepatomegaly Hypoplasia of penis Malabsorption Hydrops fetalis Edema Sensorineural hearing impairment Muscular hypotonia Abnormality of the eye Malar flattening Bird-like facies Alopecia Hypotrichosis High forehead Recurrent infections IgM deficiency Brachycephaly Conjunctival telangiectasia Clinodactyly of the 5th finger Upslanted palpebral fissure Generalized lymphadenopathy Elevated alpha-fetoprotein Abnormality of the skeletal system Enuresis nocturna Intraventricular hemorrhage Abnormality of the nervous system Respiratory failure Demyelinating peripheral neuropathy Delayed speech and language development Leukemia Lymphadenopathy Recurrent viral infections Mild global developmental delay Chronic sinusitis IgG deficiency Lymphoma Episodic fever Type II diabetes mellitus IgA deficiency Cutaneous photosensitivity Low anterior hairline Increased sensitivity to ionizing radiation Epidermal hyperkeratosis Telangiectasia of extensor surfaces Reduced subcutaneous adipose tissue Chromosomal breakage induced by ionizing radiation Dilatation Mandibular prognathia Sparse hair Prominent nasal bridge Broad nasal tip Eczema Sparse and thin eyebrow Sparse eyelashes Chronic kidney disease Pyloric stenosis Glomerulonephritis Absent eyebrow Long nose Facial telangiectasia in butterfly midface distribution Freckling Palpebral edema Absent eyelashes Neonatal asphyxia Narrow nose Hydrocele testis Nonimmune hydrops fetalis Arteriosclerosis Membranoproliferative glomerulonephritis Oval face Pulmonary lymphangiectasia Choroid plexus calcification Psoriasiform dermatitis Myelodysplasia Leukocytosis Abdominal pain Micronodular cirrhosis Cutis laxa Pulmonary fibrosis Deep philtrum Poor suck Patent foramen ovale Clitoral hypertrophy Emotional lability Scaling skin Recurrent pneumonia Dextrocardia Premature skin wrinkling Biventricular hypertrophy Clumsiness Functional respiratory abnormality Decreased liver function Infra-orbital crease Abnormal lung morphology Specific learning disability Abnormality of the clitoris Increased serum bile acid concentration Otitis media Abnormality of glutamine metabolism Ataxia Gait disturbance Arthritis Diarrhea Headache Weight loss Pneumonia Situs inversus totalis Wide anterior fontanel Combined immunodeficiency Hepatosplenomegaly Biparietal narrowing Severe combined immunodeficiency Acute leukemia Abnormality of chromosome stability Abnormality of bone marrow cell morphology Large beaked nose Anemia Intrauterine growth retardation Ventricular septal defect Atrial septal defect Splenomegaly Patent ductus arteriosus Recurrent sinusitis Hydronephrosis Hepatic fibrosis Abnormality of the kidney Short philtrum Small for gestational age Synophrys Cirrhosis Aplasia/Hypoplasia of the thymus Bronchitis Interstitial pulmonary abnormality Restrictive ventilatory defect Triangular face Abnormal bleeding Asthma Oligohydramnios Coarctation of aorta Hypertension Osteoporosis Abnormality of the adrenal glands Aminoaciduria Muscle weakness Cognitive impairment Peripheral neuropathy Intellectual disability, mild Cerebral atrophy Distal muscle weakness Papule Peripheral axonal neuropathy Vertigo Distal sensory impairment Polyneuropathy Bilateral sensorineural hearing impairment Cardiomegaly Opacification of the corneal stroma Apocrine hidrocystoma Tinnitus Axonal degeneration Abnormality of the periventricular white matter Motor polyneuropathy Progressive distal muscle weakness Angiokeratoma Angiokeratoma corporis diffusum Lip telangiectasia Increased urinary O-linked sialopeptides Distal sensory impairment of all modalities White mater abnormalities in the posterior periventricular region Telangiectasia of the oral mucosa Optic atrophy Frontal bossing Poroma Narrow nail Hydrocephalus Ectodermal dysplasia Pain Recurrent respiratory infections Autoimmunity Broad forehead Bone pain Meningitis Relative macrocephaly Telangiectases of the cheeks Hyperhidrosis Carcinoma Nail dystrophy Palmoplantar keratoderma Hypodontia Small nail Abnormality of primary teeth Palmoplantar hyperkeratosis Squamous cell carcinoma Aplasia/Hypoplasia of the eyebrow Basal cell carcinoma Ovarian neoplasm Renal cell carcinoma Onycholysis Ridged nail Premature loss of primary teeth Toenail dysplasia Plantar hyperkeratosis Thin nail Facial telangiectasia Trichodysplasia Ventriculomegaly Abnormality of cardiovascular system morphology Abnormality of the gastrointestinal tract Micromelia Abnormal dermatoglyphics Bifid scrotum Congenital sensorineural hearing impairment Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Feeding difficulties Brachydactyly Short neck Severe short stature Osteopenia Joint stiffness Camptodactyly of finger Short palm Renal hypoplasia Recurrent fractures Thickened skin Chronic diarrhea Gingival overgrowth Hyperpigmentation of the skin Skin ulcer Recurrent bacterial infections Polycystic ovaries Increased susceptibility to fractures Urticaria Abnormality of dental morphology Steatorrhea Abnormality of the musculature Osteomalacia Renal dysplasia Wide intermamillary distance Arrhythmia Arteriovenous malformation Deeply set eye Finger syndactyly Toe syndactyly Facial asymmetry Joint hyperflexibility Polymicrogyria Full cheeks Arnold-Chiari malformation Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Foot polydactyly Nevus flammeus Cerebral ischemia Dental malocclusion Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Hypertelorism Cataract Myopia Intellectual disability, severe Abnormality of the dentition Hernia Micropenis Umbilical hernia Intellectual disability, moderate Blepharophimosis Everted lower lip vermilion Poor hand-eye coordination



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