Hypertelorism, and Hirsutism

Diseases related with Hypertelorism and Hirsutism

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


Top matches:

High 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

High match X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE


X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

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Other less relevant matches:

High match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

High match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

High match FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION


DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

High match IMMUNODEFICIENCY 49; IMD49


IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

High match FGFR2-RELATED BENT BONE DYSPLASIA


FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.

FGFR2-RELATED BENT BONE DYSPLASIA Is also known as perinatal lethal bent bone dysplasia

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FGFR2-RELATED BENT BONE DYSPLASIA

High match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

High match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Hirsutism

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Generalized hirsutism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hypertelorism and Hirsutism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Absent speech Midface retrusion Talipes equinovarus Hearing impairment Syndactyly Low-set ears Generalized hypotonia Microcephaly Brachycephaly Strabismus Craniosynostosis Mandibular prognathia

Rare Symptoms - Less than 30% cases


Inverted nipples Aplasia/Hypoplasia of the skin Deeply set eye Bulbous nose Abnormality of the pinna Upslanted palpebral fissure Narrow palpebral fissure Depressed nasal bridge Cerebellar hypoplasia Hyperactivity Gastroesophageal reflux Short neck Agenesis of corpus callosum Natal tooth Cupped ear Underdeveloped nasal alae Short philtrum Microtia Narrow mouth Wide nasal bridge Delayed speech and language development Abnormality of the dentition Cleft palate Posteriorly rotated ears Generalized hypertrichosis Hypertrichosis Short clavicles Abnormality of the skin Narrow forehead Brachydactyly Short nose Subcutaneous nodule Thick hair Full cheeks Broad forehead Prominent forehead Hypopigmented skin patches Failure to thrive Extramedullary hematopoiesis Lethal skeletal dysplasia Breast aplasia High, narrow palate Decreased skull ossification Hypoplastic ischia Congenital stationary night blindness Abnormally large globe Broad alveolar ridges Abnormality of the lower limb Gingival fibromatosis Sparse or absent eyelashes Bell-shaped thorax Absent nipple Skin tags Taurodontia Shawl scrotum Hypoplastic pubic bone Decreased calvarial ossification Hypoplastic nipples Long nose Aplasia/Hypoplasia of the eyebrow Ectropion Coronal craniosynostosis Bowing of the legs Megalocornea Psoriasiform dermatitis Severe global developmental delay Ablepharon Tetraplegia Prominent nose Spastic tetraplegia Short palpebral fissure Inflammatory abnormality of the skin Lymphopenia Wormian bones Frontal hirsutism Leukopenia Eosinophilia Myopathic facies Abnormality of female external genitalia Mild hearing impairment Severe combined immunodeficiency Pulmonary artery stenosis Malar flattening Osteopenia Skeletal dysplasia Hepatosplenomegaly Gingival overgrowth Short chin Abnormality of the outer ear Clitoral hypertrophy Overfolding of the superior helices Sparse eyebrow Steep acetabular roof Metopic depression Depressed nasal ridge Anal stenosis Abnormality of the face Foot polydactyly Abnormality of the genital system Arnold-Chiari type I malformation Chronic constipation Optic nerve coloboma Medulloblastoma Anterior plagiocephaly Cutaneous syndactyly of toes Hemimegalencephaly Duplication of thumb phalanx Abnormality of thumb phalanx Sparse and thin eyebrow Growth delay Anteverted nares Hypospadias Microdontia Rigidity Conductive hearing impairment Telecanthus Wide mouth Dental malocclusion Ectodermal dysplasia Triangular face Delayed eruption of teeth Dry skin Cutaneous finger syndactyly Low anterior hairline Thin vermilion border Atresia of the external auditory canal Incomplete ossification of pubis Abnormality of the periosteum Nystagmus Cataract Ptosis Ventriculomegaly Microphthalmia Polydactyly Carcinoma Blepharophimosis Redundant skin Coloboma Finger syndactyly Toe syndactyly Cutis laxa Facial asymmetry Polymicrogyria Iris coloboma Microcornea Intestinal malrotation Dermal atrophy Broad thumb Horizontal nystagmus Hyperextensible skin Bilateral ptosis Preaxial polydactyly Preaxial hand polydactyly Basal cell carcinoma Umbilical hernia Velopharyngeal insufficiency Hernia Oculomotor apraxia Hypertonia Dystonia Encephalopathy Clinodactyly Muscular hypotonia of the trunk Sparse hair Hypermetropia Dysmetria Inability to walk Epileptic encephalopathy Apraxia Low posterior hairline Poor head control Hyperreflexia Abnormality of finger Mild microcephaly Anteverted ears Short stature Scoliosis Pain Epicanthus Intellectual disability, severe Kyphosis Hip dislocation Small hand Short foot Cerebellar atrophy Spasticity Bruxism Melanoma Neoplasm Hydrocephalus Long philtrum Papule Pruritus Abnormality of skin pigmentation Everted lower lip vermilion Broad nasal tip Nevus Round face Open mouth Neoplasm of the skin Sarcoma Ataxia Deep philtrum Melanocytic nevus Hypermelanotic macule Narrow nasal bridge Calvarial skull defect Periorbital fullness Rhabdomyosarcoma Narrow nasal ridge Cutaneous melanoma Epidermal nevus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Intellectual disability, profound Intellectual disability, mild Immunodeficiency Hypoplasia of the corpus callosum Bilateral talipes equinovarus Long fingers Prominent metopic ridge Broad neck Short columella Asplenia Widow's peak Median cleft palate Upper eyelid coloboma Sensorineural hearing impairment Feeding difficulties Myopia Behavioral abnormality Cutaneous syndactyly Constipation Coarse facial features Thin upper lip vermilion Anxiety Aggressive behavior Attention deficit hyperactivity disorder Synophrys Astigmatism Thick eyebrow Downturned corners of mouth Sleep disturbance Agitation Overfolded helix Wide anterior fontanel Obesity Polycystic ovaries Diabetes mellitus Hyperkeratosis Macrotia Carious teeth Delayed puberty Muscle cramps Macroglossia Type II diabetes mellitus Epidermal acanthosis Insulin resistance Accelerated skeletal maturation Acanthosis nigricans Hyperinsulinemia Choanal atresia Increased number of teeth Generalized hyperpigmentation Insulin-resistant diabetes mellitus Growth hormone excess Ketoacidosis Prolactin excess Macroorchidism Menstrual irregularities Cryptorchidism High palate Narrow chest Talipes Anal atresia Abnormality of male external genitalia



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