Immunodeficiency, and Gynecomastia

Diseases related with Immunodeficiency and Gynecomastia

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Gynecomastia that can help you solving undiagnosed cases.

Top matches:

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

High match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Other less relevant matches:

Low match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.

AROMATASE EXCESS SYNDROME Is also known as aexs|familial hyperestrogenism|hereditary prepubertal gynecomastia|aromatase activity, increased

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypogonadism
  • Falls
  • Gynecomastia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE EXCESS SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Gynecomastia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Gynecomastia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Recurrent respiratory infections Macrocephaly Kyphosis Seizures Neoplasm Micrognathia Recurrent infections Generalized hypotonia Brachydactyly Anodontia Intention tremor Cleft palate Alopecia Nail dysplasia Toe syndactyly Neurological speech impairment Syndactyly Cleft lip Hypoplastic nipples Hearing impairment Ectodermal dysplasia Hypodontia Sparse hair Short nose Fever High forehead Hand polydactyly Failure to thrive Low-set ears Frontal bossing Hydrocephalus Decreased antibody level in blood Hypoplasia of the maxilla Dilatation Anal atresia Abnormality of the kidney Renal agenesis High palate Short neck Tremor Downslanted palpebral fissures Skeletal muscle atrophy Intrauterine growth retardation Inguinal hernia Motor delay Delayed speech and language development Hypospadias Cryptorchidism Abnormal facial shape Growth delay Micropenis Muscular hypotonia

Rare Symptoms - Less than 30% cases

Respiratory distress Mucosal telangiectasiae Feeding difficulties Congenital glaucoma Abnormality of the dentition Cellular immunodeficiency Abnormality of the hand Prominent forehead Respiratory tract infection Leukemia Short distal phalanx of finger Decreased proportion of CD4-positive T cells Hodgkin lymphoma Abnormality of the vasculature Lymphoma Multiple cafe-au-lait spots Cystic hygroma Papule Horseshoe kidney Flexion contracture Breast carcinoma Lymphopenia Cafe-au-lait spot Abnormal cerebellum morphology Telangiectasia Broad thumb Delayed eruption of teeth Underdeveloped nasal alae Postnatal growth retardation Wide nasal bridge Kyphoscoliosis Hemivertebrae Keratitis Nail pits Oral cleft Hydronephrosis Malar flattening Urethral atresia Microphthalmia Abnormal heart morphology Abnormality of the urinary system Conductive hearing impairment Finger syndactyly Oligohydramnios Cleft upper lip Pulmonary hypoplasia Carcinoma Optic atrophy Wide intermamillary distance Absent eyebrow Microdontia Sparse scalp hair Depressed nasal ridge Thin skin Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Skeletal dysplasia Spasticity Glaucoma Absent eyelashes Hypoplasia of the thymus Growth hormone deficiency Heat intolerance Conical tooth Hypohidrotic ectodermal dysplasia Strabismus Hyperkeratosis Polydactyly Hypoplasia of penis Gait disturbance Muscle weakness Ataxia Hypogonadism Global developmental delay Intellectual disability, moderate Joint hypermobility Scaphocephaly Ventriculomegaly Sandal gap Delayed puberty Intellectual disability, severe Gait ataxia Short philtrum Blepharophimosis Pes planus Abnormality of the pinna Polymicrogyria Joint laxity Macroglossia Cognitive impairment Narrow mouth Obesity Myopia Hyperhidrosis Atrial septal defect Epicanthus Cataract Myoclonus Cerebellar atrophy Thoracic hypoplasia Short femoral neck Metaphyseal widening Dystonia Short metatarsal Genu varum Disproportionate short-limb short stature Microretrognathia Pneumonia Joint dislocation Coxa vara Irregular vertebral endplates Anemia Coxa valga Hypoplasia of the corpus callosum Diabetes mellitus Rhizomelia Bowing of the long bones Difficulty walking Elevated hepatic transaminase Osteoarthritis Splayed fingers Protuberant abdomen Flat acetabular roof Broad first metatarsal Medial deviation of the foot Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Phalangeal dislocation Peripheral neuropathy Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Radioulnar dislocation Advanced ossification of carpal bones Generalized joint laxity Long upper lip Vertebral clefting Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Broad femoral neck Dysarthria Coronal cleft vertebrae Nystagmus Generalized osteoporosis Short 1st metacarpal Multiple joint dislocation Hypothyroidism Waddling gait Blepharitis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Absent speech Sparse pubic hair Rectovaginal fistula Dysuria Sparse axillary hair Generalized hypopigmentation Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Xerostomia Nasolacrimal duct obstruction Ectrodactyly Hypopituitarism Absent septum pellucidum Hydroureter Epiphora Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Conjunctivitis Hypogonadotrophic hypogonadism Renal dysplasia Abnormality of the genital system Omphalocele Split hand Selective tooth agenesis Duplicated collecting system Short metacarpal Respiratory failure Round face Abdominal distention Renal cyst Anxiety Micromelia Smooth philtrum Narrow chest Platyspondyly Joint stiffness Hyperlordosis Arthritis Hypertonia Osteopenia Proptosis Behavioral abnormality Abnormality of the nasopharynx Osteoporosis Severe short stature Clinodactyly Midface retrusion Edema Anteverted nares Talipes equinovarus Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Semilobar holoprosencephaly Ureterocele Flat face Distal amyotrophy Abnormality of the liver Dandy-Walker malformation Hypoplastic left heart Abnormality of neuronal migration Unilateral renal agenesis Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Narrow palate Wormian bones Aortic valve stenosis Preauricular skin tag Large fontanelles Cerebellar vermis hypoplasia Low posterior hairline Limb undergrowth Tetralogy of Fallot Intestinal malrotation Mesomelia Bifid uvula Postural instability High, narrow palate Iris coloboma Pulmonic stenosis Broad forehead Prominent nasal bridge Abnormal cardiac septum morphology Coloboma Feeding difficulties in infancy Camptodactyly Gastroesophageal reflux Brachycephaly Cerebellar hypoplasia Prominent occiput Abnormality of the hip bone Abnormality of cardiovascular system morphology Abnormal tricuspid valve morphology Isosexual precocious puberty Menstrual irregularities Decreased serum testosterone level Acne Precocious puberty Accelerated skeletal maturation Falls Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Lethal skeletal dysplasia Atrioventricular canal defect Single umbilical artery Narrow nasal bridge Posterior embryotoxon Adrenal hypoplasia Double outlet right ventricle Pierre-Robin sequence Missing ribs Ectopic anus Complete atrioventricular canal defect Enlarged cisterna magna Communicating hydrocephalus Mitral stenosis Hypoplastic fingernail Abnormal mitral valve morphology Aplasia/Hypoplasia of the nipples Patent ductus arteriosus Ventricular septal defect Distal muscle weakness Truncal ataxia Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Abnormality of the hair Myeloid leukemia Hepatitis Abnormality of eye movement Abnormality of movement Unsteady gait Polyneuropathy Progressive cerebellar ataxia Chorea Apraxia Abnormal vertebral morphology Type II diabetes mellitus Pancytopenia Choreoathetosis Bronchiectasis Limb ataxia Sinusitis Abnormality of the immune system Prematurely aged appearance Abnormality of the skeletal system Chronic myelogenous leukemia Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Conjunctival telangiectasia IgA deficiency Recurrent bronchitis Hypopigmentation of hair Hepatocellular carcinoma Acute lymphoblastic leukemia Severe combined immunodeficiency Recurrent lower respiratory tract infections Chromosome breakage Renal neoplasm Abnormality of chromosome stability B-cell lymphoma Abnormality of the testis Lymphoproliferative disorder Spinocerebellar tract degeneration Absent Achilles reflex Chronic lymphatic leukemia Choanal atresia Abnormality of the umbilicus Vesicoureteral reflux Transitional cell carcinoma of the bladder Hypertension Panhypopituitarism Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Acrokeratosis Abnormal hair pattern Abdominal obesity Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Tics Distal lower limb amyotrophy Abnormality of earlobe Cubitus valgus Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Anhidrosis Narrow palpebral fissure Brittle hair Prominent supraorbital ridges Dysphonia Short chin Type I diabetes mellitus Hoarse voice Acanthosis nigricans Relative macrocephaly Cachexia Large hands Down-sloping shoulders Eczema Open bite Cortical dysplasia Cortical gyral simplification Truncal obesity Abnormality of the musculature Everted lower lip vermilion Thick vermilion border Cerebellar vermis atrophy Dry skin Hypotrichosis Biparietal narrowing Striae distensae Restlessness Adenoma sebaceum Neoplasm of the central nervous system Short thumb Drooling Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Cranial nerve paralysis Cellulitis Neoplasm of the skin Pain Exotropia Chronic diarrhea Subcutaneous nodule Overgrowth Myopathy Diarrhea Intellectual disability, mild Palmoplantar keratoderma Nausea and vomiting Headache Pectus excavatum Autism Multiple lipomas Abnormality of toe Generalized hyperkeratosis Arteriovenous malformation Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Small earlobe Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Hydrocele testis Acute myeloid leukemia Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Mood swings Lipoma Hashimoto thyroiditis Renal cell carcinoma Moderately short stature Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Sparse body hair Rhinitis Broad nasal tip Aplasia/Hypoplasia of the thumb Bilateral microphthalmos Gonadoblastoma Vaginal atresia Bicornuate uterus Abnormal cortical gyration Calvarial skull defect Choanal stenosis Myelomeningocele Postaxial foot polydactyly Foot polydactyly Anal stenosis Facial cleft Gonadal dysgenesis Cutaneous finger syndactyly Bilateral renal agenesis Anophthalmia Cupped ear Clitoral hypertrophy Atresia of the external auditory canal Hyperactivity Renal hypoplasia/aplasia Cutaneous syndactyly Dental crowding Encephalocele Renal hypoplasia Ambiguous genitalia Mandibular prognathia Coarse facial features Dental malocclusion Subglottic stenosis Abnormality of the anus Wide nose Laryngeal atresia Clinodactyly of the 5th finger Abnormality of the foot Carious teeth Small for gestational age Microtia Telecanthus Pes cavus Photophobia Posteriorly rotated ears Proximal muscle weakness Aplasia/Hypoplasia of the sternum Malformed lacrimal duct Extension of hair growth on temples to lateral eyebrow Abnormality of the small intestine Laryngeal stenosis Severe T-cell immunodeficiency Wide pubic symphysis Midline nasal groove Lacrimal duct aplasia Hypoplastic superior helix Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cryptophthalmos Cleft ala nasi Difficulty in tongue movements Abnormality of the nares Abnormality of the thymus Upper eyelid coloboma Postaxial polydactyly EEG abnormality Broad-based gait Memory impairment Abnormality of skin pigmentation Malabsorption Nail dystrophy Skin rash Scarring Erythema Pallor Short palm Small hand Visual loss Short foot Visual impairment Prominent nose Hypoplastic-absent sebaceous glands Hypopigmentation of the skin Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Abnormal oral mucosa morphology Decreased testicular size Anhidrotic ectodermal dysplasia Absent nipple Concave nail Anterior hypopituitarism Interphalangeal joint contracture of finger Thick lower lip vermilion Taurodontia Soft skin Retinal detachment Tetraplegia Aggressive behavior Thick nail Corneal opacity Wide mouth Camptodactyly of finger Blindness Synophrys Atrophic, patchy alopecia Retinal vascular proliferation Hyperpigmented streaks Retinal hemorrhage Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Generalized osteosclerosis Ridged nail Nevus Hypoplasia of the fovea Pustule Uveitis Supernumerary nipple Hyperostosis Joint hyperflexibility Coarse hair Eosinophilia Increased bone mineral density Hyperpigmentation of the skin Lymphedema Fine hair Abnormal blistering of the skin Bulbous nose Breast hypertrophy


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