Abnormal facial shape, and Cutaneous photosensitivity

Diseases related with Abnormal facial shape and Cutaneous photosensitivity

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


Top matches:

Low match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

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

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

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Other less relevant matches:

Low 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

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Low 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

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Cutaneous photosensitivity

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Intellectual disability Recurrent infections Microcephaly Cataract Intellectual disability, mild Osteoporosis Severe short stature Skin rash Recurrent respiratory infections Neoplasm Carious teeth Short nose Erythema Hyperkeratosis Alopecia Midface retrusion Mandibular prognathia Telangiectasia Delayed speech and language development Immunodeficiency Thrombocytopenia Generalized hypotonia Muscular hypotonia Talipes equinovarus Abnormality of the dentition Coxa valga Chronic lung disease Failure to thrive Sensorineural hearing impairment Flexion contracture Kyphoscoliosis Diarrhea Malar flattening Psoriasiform dermatitis High pitched voice Deeply set eye Depressed nasal bridge Hypertelorism Ventriculomegaly Pneumonia Hypertension

Rare Symptoms - Less than 30% cases


Hip dislocation Genu valgum Aortic valve stenosis Bilateral cryptorchidism Proportionate short stature Joint laxity Concave nasal ridge Hypoplasia of the zygomatic bone Periodontitis Broad forehead Glaucoma Intrauterine growth retardation Osteopenia Frontal bossing Cardiomyopathy Skeletal muscle atrophy Ptosis Elevated hepatic transaminase Diabetes mellitus Hernia Postnatal growth retardation Abnormality of chromosome stability Cleft palate Splenomegaly Abnormal lung morphology Proptosis Elbow flexion contracture Hypogonadism Insulin resistance Sloping forehead Strabismus Prominent nose Vomiting Scoliosis Hirsutism Obesity Prominent forehead Prominent nasal bridge Telangiectasia of the skin High forehead Ataxia Arachnodactyly Convex nasal ridge Microphthalmia Long philtrum Intellectual disability, severe Hypoplasia of the corpus callosum Visual impairment Nystagmus Thin skin Acute leukemia Pes cavus Sparse hair Wide nasal bridge Palmoplantar keratoderma Clinodactyly of the 5th finger Asthma Skeletal dysplasia Flat face Recurrent pneumonia Narrow face Abnormality of the skeletal system Hepatomegaly Abnormality of the nervous system Epicanthus Myelodysplasia Increased antibody level in blood Atrophic scars Neoplasm of the skin Triangular face Osteosarcoma Poikiloderma Hypothyroidism Otitis media Telecanthus Thin vermilion border Small for gestational age Low anterior hairline Dry skin Bird-like facies Type II diabetes mellitus Lymphoma Hypermetropia Squamous cell carcinoma Nail dystrophy Leukemia Single transverse palmar crease Microtia Motor delay Bifid uvula Pulmonic stenosis Advanced ossification of carpal bones Narrow chest Phalangeal dislocation Prominent scalp veins Large joint dislocations Palmoplantar cutis gyrata Abnormality of primary teeth Joint hyperflexibility Absent earlobe Soft, doughy skin Feeding difficulties Abnormality of skin pigmentation Bruising susceptibility Joint hypermobility Slender toe Testicular torsion Facial wrinkling Flat forehead Joint dislocation Pectus carinatum Abnormality of cardiovascular system morphology Sparse eyebrow Narrow mouth Nevus Congenital diaphragmatic hernia Pectus excavatum Blue sclerae Lipodystrophy Radioulnar synostosis Bowing of the legs Fine hair Hyperextensible skin Sparse scalp hair Bowing of the long bones Cutis laxa Sparse eyelashes Accelerated skeletal maturation Elbow dislocation Curly hair Scarring Sparse and thin eyebrow Talipes equinovalgus Forearm undergrowth Ulnar bowing Dermal translucency Long toe Poor wound healing Small face Generalized osteoporosis Short neck Varicose veins Progeroid facial appearance Mild global developmental delay Atypical scarring of skin Gingivitis Genu recurvatum Macrocephaly Short clavicles Pes planus Cognitive impairment Corneal opacity Decreased testicular size Lymphopenia Broad-based gait Renal hypoplasia Epidermal acanthosis Apraxia Hypotelorism Bradykinesia Pigmentary retinopathy Limb undergrowth Renal agenesis Bone marrow hypocellularity Progressive cerebellar ataxia Broad nasal tip Polyneuropathy Sensory neuropathy Falls Long face Dysmetria Synophrys Dilated cardiomyopathy Hypergonadotropic hypogonadism Short chin Attention deficit hyperactivity disorder Long nose Gastrointestinal stroma tumor Multinodular goiter Glioma Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Truncal obesity Acanthosis nigricans Cortical gyral simplification Ectopic kidney Sensory axonal neuropathy Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Goiter Leukopenia Short philtrum Abnormal pyramidal sign Anal atresia Short thumb Skin vesicle Absent thumb Agenesis of permanent teeth Basal cell carcinoma Premature graying of hair Pyloric stenosis Sarcoma Dermal atrophy Congenital hip dislocation Short palpebral fissure Anteriorly placed anus Microdontia Growth hormone deficiency Hypodontia Microcornea Hypopigmentation of the skin Delayed eruption of teeth Short foot Small hand Short palm Increased number of teeth Aplasia/Hypoplasia of the thumb Retinopathy Forearm reduction defects Rigidity Micropenis Babinski sign Inguinal hernia Clinodactyly Gait disturbance Tremor Dysarthria Peripheral neuropathy Zonular cataract Absent radius Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Patellar aplasia Rectovaginal fistula Low-set ears Systemic lupus erythematosus Facial telangiectasia in butterfly midface distribution Osteolytic defects of the phalanges of the hand Premature loss of permanent teeth Mitral valve calcification Hip subluxation Aortic valve calcification Shallow acetabular fossae Muscle fiber atrophy Subvalvular aortic stenosis Onycholysis High anterior hairline Dentinogenesis imperfecta limited to primary teeth Heart block Epiphora Scaling skin Osteolysis Decreased body weight Cardiomegaly Waddling gait Generalized muscle weakness Unerupted tooth Tendon rupture Smooth philtrum Cerebellar hypoplasia Congenital cataract Arthrogryposis multiplex congenita Muscular dystrophy Blepharophimosis Camptodactyly Muscular hypotonia of the trunk Macrotia Agenesis of corpus callosum Kyphosis Hypoplasia of the tooth germ Hypertonia Hyperreflexia Seizures Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the maxilla Thin upper lip vermilion Gliosis Prominent supraorbital ridges Neutropenia Cough Respiratory tract infection Respiratory failure Lack of subcutaneous fatty tissue Absence of subcutaneous fat Poor coordination Prematurely aged appearance Cachexia Recurrent otitis media Hypoplasia of dental enamel Ascites Vertigo Proteinuria Weight loss Renal insufficiency Respiratory distress Optic atrophy Eczema Conjunctivitis Arrhythmia Combined immunodeficiency Visual loss Congestive heart failure Myopia Muscle weakness Large beaked nose Abnormality of bone marrow cell morphology Severe combined immunodeficiency Biparietal narrowing Leukocytosis Wheezing Pancytopenia Hypoplasia of penis Lymphadenopathy Malabsorption Brachycephaly Upslanted palpebral fissure Subungual hyperkeratosis Blepharitis Neurodegeneration Delayed myelination Agenesis of maxillary lateral incisor Infertility Cafe-au-lait spot Bronchiectasis Abnormality of the face Hypertrichosis Specific learning disability Abnormality of the skin Decreased antibody level in blood Ichthyosis Dolichocephaly Azoospermia Finger syndactyly Protruding ear Polydactyly Hyperhidrosis Delayed skeletal maturation Syndactyly Recurrent cystitis Diffuse telangiectasia Sinusitis Sacral dimple Facial hirsutism Hypoplastic pelvis Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chromosome breakage Hypopigmented skin patches IgG deficiency Hodgkin lymphoma IgA deficiency Acute myeloid leukemia Myeloid leukemia Pulmonary fibrosis Hand polydactyly Reduced number of teeth Crusting erythematous dermatitis Poliosis Wide intermamillary distance Osteopetrosis Hepatosplenomegaly Abnormality of metabolism/homeostasis Downslanted palpebral fissures High palate Second metatarsal posteriorly placed Deep longitudinal plantar crease Long ear Miosis Abnormality of the ear Pruritus Rocker bottom foot Congenital muscular dystrophy Knee flexion contracture Joint contracture of the hand Intellectual disability, profound Cerebral calcification Peripheral demyelination Neuronal loss in central nervous system Papule Dehydration Abnormality of the middle ear Reduced bone mineral density White forelock Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Osteomyelitis Abnormality of the fingernails Hepatitis Generalized hirsutism Bilateral single transverse palmar creases Skin ulcer Lymphedema Abnormality of retinal pigmentation Inflammatory abnormality of the skin Depressed nasal ridge Low posterior hairline Long neck



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