Abnormal facial shape, and Papule

Diseases related with Abnormal facial shape and Papule

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


Top matches:

Low match LARGE CONGENITAL MELANOCYTIC NEVUS


A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Low match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Low match KERATODERMA HEREDITARIUM MUTILANS


Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS

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Other less relevant matches:

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

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 EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A


Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A Is also known as generalized resistance to 1,25-dihydroxyvitamin d|rickets-alopecia syndrome|vitamin d-dependent rickets, type 2a, with or without alopecia|vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|hypocalcemic vitamin d-

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A

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 FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

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

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Subcutaneous nodule Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hirsutism Hepatomegaly Micrognathia Dry skin Aplasia/Hypoplasia of the skin Splenomegaly Failure to thrive

Rare Symptoms - Less than 30% cases


Intellectual disability Global developmental delay Coarse facial features Intellectual disability, mild Erythema Growth delay Anemia Skin ulcer Hirsutism Facial asymmetry Peripheral axonal neuropathy Abnormality of the skin Urticaria Xanthomatosis Low posterior hairline Ptosis Osteolysis Abnormality of the skeletal system Abnormality of the nail Cognitive impairment Alopecia Palmoplantar keratoderma Visual impairment Hypertelorism Diarrhea Neoplasm Elevated erythrocyte sedimentation rate Short nose Prominent forehead Reduced bone mineral density Pruritus High forehead Thin skin Round face Skeletal muscle atrophy Aminoaciduria Lymphedema Obesity Thickened skin Skin rash Osteopenia Frontal bossing Carious teeth Proptosis Hepatosplenomegaly Myalgia Recurrent infections Osteoporosis Vomiting Bulging epiphyses Intellectual disability, severe Malar flattening Delayed speech and language development Arachnodactyly Abnormality of metabolism/homeostasis Genu valgum Thrombocytopenia Elevated hepatic transaminase Downslanted palpebral fissures Recurrent respiratory infections High palate Enlargement of the ankles Sparse bone trabeculae Secondary hyperparathyroidism Increased serum 1,25-dihydroxyvitamin D3 Deformed rib cage Bulging of the costochondral junction Subperiosteal bone resorption Seizures Abdominal wall muscle weakness Generalized hypotonia Hypoplasia of dental enamel Recurrent fractures Delayed eruption of teeth Irritability Difficulty walking Epicanthus Motor delay Muscular hypotonia Abnormal granulocyte morphology Hypocalcemia Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Uveitis Bone pain Elevated alkaline phosphatase Enlargement of the wrists Delayed epiphyseal ossification Widely patent fontanelles and sutures Fibular bowing Hypocalcemic seizures Difficulty standing Generalized aminoaciduria Alopecia universalis Alopecia totalis Thin bony cortex Elevated circulating parathyroid hormone level Premature loss of teeth Rickets Asthma Osteomalacia Hyperparathyroidism Tibial bowing Femoral bowing Hypophosphatemia Bowing of the legs Flat occiput Metaphyseal irregularity Protuberant abdomen Systemic lupus erythematosus Convex nasal ridge Lipoatrophy Peripheral arterial stenosis Osteolytic defects of the phalanges of the hand Maternal diabetes Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Short clavicles Hyperuricemia Secondary amenorrhea Glomerulopathy Cellulitis Angina pectoris Reduced subcutaneous adipose tissue Coronary artery atherosclerosis Skeletal muscle hypertrophy Hyperglycemia Hyperinsulinemia Lipodystrophy Polycystic ovaries Cranial nerve paralysis Hyperlipidemia Prominent superficial veins Decreased HDL cholesterol concentration Acanthosis nigricans Increased intraabdominal fat Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Increased facial adipose tissue Abnormality of complement system Adipose tissue loss Osteopoikilosis Abnormality of skeletal muscle fiber size Advanced eruption of teeth Increased adipose tissue around the neck Eclampsia Congenital generalized lipodystrophy Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Generalized lipodystrophy Abnormality of the menstrual cycle Acute pancreatitis Hyperlipoproteinemia Atherosclerosis Pancreatitis Dehydration Psoriasiform dermatitis Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Abnormality of the immune system Abnormality of the hip bone Petechiae Increased antibody level in blood Osteomyelitis Arthropathy Abnormality of the middle ear Abnormality of the fingernails Recurrent pneumonia Bilateral single transverse palmar creases Low anterior hairline Abnormality of retinal pigmentation Abnormal lung morphology Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Hepatitis White forelock Poliosis Spontaneous abortion Diabetes mellitus Insulin resistance Myocardial infarction Hypertriglyceridemia Epidermal acanthosis Hepatic steatosis Thin vermilion border Infertility Narrow chest Hypertrophic cardiomyopathy Pectus excavatum Facial hirsutism Dilatation Congestive heart failure Myopathy Cardiomyopathy Hypertension Cataract Short stature Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Amyloidosis Macrocephaly Abnormal joint morphology Orthostatic hypotension Cleft lip Cleft palate Microcephaly Supranuclear ophthalmoplegia Supranuclear gaze palsy Impaired smooth pursuit Abnormality of the musculature Macule Ichthyosis Dysdiadochokinesis Macular degeneration Fasciculations Limb ataxia Hypohidrosis Intention tremor Hypotension Progressive cerebellar ataxia Hypotrichosis Hypogonadotrophic hypogonadism Ophthalmoplegia Epidermal thickening Vertigo Abnormality of the cerebral white matter Distal muscle weakness Abnormality of the eye Cerebral atrophy Peripheral neuropathy Muscle weakness Honeycomb palmoplantar keratoderma Ainhum Mutism Autoamputation of digits Abnormality of the spinal cord Plantar hyperkeratosis Leukonychia Amniotic constriction ring Abnormal toenail morphology Self-injurious behavior Palmoplantar hyperkeratosis Abnormality of movement Neurological speech impairment Thick vermilion border Neoplasm of the skin Narrow nasal bridge Hypermelanotic macule Melanocytic nevus Deep philtrum Sarcoma Melanoma Hypopigmented skin patches Open mouth Periorbital fullness Nevus Full cheeks Broad nasal tip Everted lower lip vermilion Abnormality of skin pigmentation Broad forehead Long philtrum Hydrocephalus Calvarial skull defect Rhabdomyosarcoma Abnormal pyramidal sign Spasticity Gait ataxia Constipation Babinski sign Hyporeflexia Cerebellar atrophy Gait disturbance Dysarthria Hyperreflexia Strabismus Thick hair Nystagmus Ataxia Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Narrow nasal ridge Distal sensory impairment Polyneuropathy Progressive sensorineural hearing impairment Hallux valgus Shoulder dislocation Squared iliac bones Knee dislocation Thin eyebrow Abnormality of the vasculature Thoracic scoliosis Atrophic scars Bilateral ptosis Bursitis Redundant skin Hyperextensible skin Cutis laxa Narrow palate Osteoarthritis Mitral valve prolapse Webbed neck Bruising susceptibility Ventral hernia Brachydactyly Scarring Migraine Leukocytosis Increased intracranial pressure Purpura Joint dislocation Vasculitis Meningitis Overgrowth Premature birth Lymphadenopathy Fever Nausea and vomiting Arthritis EEG abnormality Arthralgia Skeletal dysplasia Blindness Edema Fatigue Hip dislocation Pes planus Bilateral sensorineural hearing impairment Progressive distal muscle weakness Telangiectasia of the oral mucosa White mater abnormalities in the posterior periventricular region Distal sensory impairment of all modalities Increased urinary O-linked sialopeptides Lip telangiectasia Angiokeratoma corporis diffusum Angiokeratoma Motor polyneuropathy Flexion contracture Abnormality of the periventricular white matter Telangiectasia of the skin Axonal degeneration Tinnitus Opacification of the corneal stroma Telangiectasia Thick lower lip vermilion Cardiomegaly Pain Respiratory distress Macrotia Abnormality of the gastrointestinal tract Inguinal hernia Hernia Short neck Cryptorchidism Progressive flexion contractures Intractable diarrhea Abnormal diaphysis morphology Gingival fibromatosis Severe failure to thrive Joint stiffness Abnormality of the skull Growth abnormality Elbow flexion contracture Cardiac arrest Abnormality of the hair Gingival overgrowth Chronic diarrhea Abnormality of the face Increased intramuscular fat



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