Abnormal facial shape, and Alopecia

Diseases related with Abnormal facial shape and Alopecia

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


Top matches:

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 PARIETAL FORAMINA 2; PFM2


Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about PARIETAL FORAMINA 2; PFM2

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4


Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 Is also known as chromosome 19p13 duplication syndrome|cushing syndrome, adrenal, due to ppnad4

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Obesity
  • Depressivity
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4

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Other less relevant matches:

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

Low match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Low match SÉZARY SYNDROME


Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Low match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Low match MOGS-CDG


MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-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

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

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

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Hypotrichosis Uncommon - Between 30% and 50% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Edema Short nose Broad nasal tip Nail dystrophy Global developmental delay

Rare Symptoms - Less than 30% cases


Broad thumb Sparse eyebrow Broad columella Short stature Depressivity Diabetes mellitus Eczema Mandibular prognathia Skin rash Splenomegaly Facial asymmetry Thickened skin Low-set ears Wide nasal bridge Upslanted palpebral fissure Sparse and thin eyebrow Sparse eyelashes Short palpebral fissure Sparse hair Hepatomegaly Cleft palate Neoplasm Depressed nasal bridge Plantar hyperkeratosis Hypertelorism Palmoplantar hyperkeratosis Progressive hearing impairment Corneal dystrophy Congenital hypothyroidism Wide nasal base Broad distal phalanx of finger Hydrocele testis Narrow nose Seizures Generalized hypotonia Scoliosis Muscular hypotonia Failure to thrive Delayed myelination High palate Feeding difficulties Optic atrophy Absent eyelashes Hypoplasia of the corpus callosum Palpebral edema Freckling Cerebral atrophy Recurrent infections Abnormality of metabolism/homeostasis Constipation Nonimmune hydrops fetalis Low-set, posteriorly rotated ears Arteriosclerosis Intellectual disability, mild Facial telangiectasia in butterfly midface distribution Epidermal hyperkeratosis Nystagmus Strabismus Delayed speech and language development Visual impairment Motor delay Brachydactyly Myopia Anteverted nares Cerebellar atrophy Choroid plexus calcification Feeding difficulties in infancy Pulmonary lymphangiectasia Long philtrum Rod-cone dystrophy Oval face Membranoproliferative glomerulonephritis Posteriorly rotated ears Glaucoma Hypothyroidism High forehead Thin upper lip vermilion Deeply set eye Retrognathia Hepatic failure Blepharophimosis Atrophic scars Otitis media Pyloric stenosis Cutaneous photosensitivity Recurrent otitis media Recurrent pneumonia Conjunctivitis Chronic kidney disease Myelodysplasia Hydrops fetalis Increased antibody level in blood Lymphedema Wheezing Neutropenia Blepharitis Osteosarcoma Poikiloderma Subungual hyperkeratosis Telangiectasia Epicanthus Renal insufficiency Thick vermilion border Dilatation Proteinuria Stage 5 chronic kidney disease Asthma Carious teeth Prominent nasal bridge Generalized edema Wide nose Recurrent fractures Decreased antibody level in blood Long eyelashes Prominent occiput Thoracic scoliosis Hypoventilation Long nose Chronic constipation Reduced subcutaneous adipose tissue Overlapping fingers Hand clenching Cough Absent eyebrow Cataract Cutaneous T-cell lymphoma Frontal bossing Malar flattening Midface retrusion Pneumonia Recurrent respiratory infections Respiratory failure Glomerulonephritis Respiratory tract infection Intellectual disability Hepatosplenomegaly Abnormal immunoglobulin level Increased body weight Aplasia cutis congenita of scalp Parietal foramina Wide nasal ridge Symmetrical, oval parietal bone defects Muscle weakness Obesity Osteoporosis Osteopenia Proximal muscle weakness Bruising susceptibility Hirsutism Acne Depressed nasal tip Emotional lability Glucose intolerance Fragile skin Increased circulating cortisol level Adrenal hyperplasia Ecchymosis Abdominal obesity Adrenocortical adenoma Moon facies Dorsocervical fat pad Primary hypercortisolism Macronodular adrenal hyperplasia Diastema Bilateral cryptorchidism Cognitive impairment Ridged nail Hyperhidrosis Carcinoma Abnormality of the eye Hypodontia Ectodermal dysplasia Small nail Squamous cell carcinoma Aplasia/Hypoplasia of the eyebrow Basal cell carcinoma Ovarian neoplasm Renal cell carcinoma Onycholysis Premature loss of primary teeth Narrow palate Toenail dysplasia Thin nail Facial telangiectasia Trichodysplasia Bird-like facies Abnormality of primary teeth Narrow nail Apocrine hidrocystoma Poroma Cryptorchidism Brachycephaly Encephalocele Microcephaly Cleft lip Abnormal lymphocyte morphology Weight loss Stenosis of the external auditory canal Trismus Eyelid coloboma Mandibulofacial dysostosis Delayed eruption of primary teeth Lower eyelid coloboma Peripheral neuropathy Fever Skeletal muscle atrophy Tremor Immunodeficiency Pruritus Hydroureter Dry skin Lymphadenopathy Lymphoma Abnormality of the face Neoplasm of the skin Ectropion Erythroderma Irregular hyperpigmentation Gangrene Abnormality of the pleura Lichenification T-cell lymphoma Glossoptosis Preauricular pit Papule Ainhum Ichthyosis Abnormality of the nail Hypogonadotrophic hypogonadism Osteolysis Mutism Self-injurious behavior Abnormal toenail morphology Xanthomatosis Amniotic constriction ring Leukonychia Abnormality of the spinal cord Autoamputation of digits Epidermal thickening Cupped ear Honeycomb palmoplantar keratoderma Micrognathia Abnormality of the dentition Conductive hearing impairment Abnormality of the pinna Protruding ear Coloboma Everted lower lip vermilion Hypoplasia of the maxilla Dental crowding Preauricular skin tag Bicuspid aortic valve Telangiectasia of extensor surfaces



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