Abnormal facial shape, and Hirsutism

Diseases related with Abnormal facial shape and Hirsutism

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


Top matches:

Low match HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME


Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as haff|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome

Related symptoms:

  • Intellectual disability
  • Coarse facial features
  • Blepharophimosis
  • Joint hyperflexibility
  • Bulbous nose


SOURCES: ORPHANET MENDELIAN

More info about HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

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 ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

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Other less relevant matches:

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

Low match LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7


Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Low match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Low match AURICULOCONDYLAR SYNDROME 2; ARCND2


Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Low match COFFIN-SIRIS SYNDROME 4; CSS4


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

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

Symptoms // Phenotype % cases
Coarse facial features Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Generalized hirsutism Generalized hypotonia Thick eyebrow Gingival overgrowth Thick vermilion border Hypertrichosis Full cheeks Deep philtrum

Rare Symptoms - Less than 30% cases


Microcephaly Feeding difficulties Synophrys Sensorineural hearing impairment Short neck Kyphosis Cerebellar hypoplasia Macroglossia Long penis Depressed nasal ridge Long eyelashes Diabetes mellitus Thick nasal alae Micrognathia Wide mouth Bulbous nose Abnormality of the dentition Intrauterine growth retardation Macrocephaly Cognitive impairment Ataxia Everted lower lip vermilion Lissencephaly Round face Dysmetria Abnormal pyramidal sign Female pseudohermaphroditism Short palm Kyphoscoliosis Gait ataxia Inability to walk Epicanthus Micropenis Downslanted palpebral fissures Hyporeflexia Small hand Abnormality of the abdominal wall Macrotia Peritonitis Absent speech Delayed speech and language development Wide nasal base Relative macrocephaly Generalized hypertrichosis Thoracic kyphoscoliosis Brain atrophy Widely spaced teeth Congenital, generalized hypertrichosis Strabismus Dysarthria EEG abnormality Tremor Hypoplasia of the corpus callosum Intellectual disability, severe Cerebellar atrophy Low anterior hairline Overgrowth Delayed eruption of teeth Gingival fibromatosis Short foot Atrophy of the dentate nucleus Intention tremor Cleft at the superior portion of the pinna Upper airway obstruction Central apnea Snoring Overfolding of the superior helices Speech articulation difficulties Temporomandibular joint ankylosis Hypoplastic superior helix Mandibular condyle hypoplasia Question mark ear Mandibular condyle aplasia Scoliosis Ankylosis Muscular hypotonia Visual impairment Depressed nasal bridge Anteverted nares Abnormality of cardiovascular system morphology Delayed skeletal maturation Wide nose Dandy-Walker malformation Sparse scalp hair Abnormal corpus callosum morphology Glossoptosis Bulbar palsy Heterotopia Low-set ears Truncal ataxia Intellectual disability, progressive Dysdiadochokinesis Global brain atrophy Cortical dysplasia Thoracic scoliosis Thoracic kyphosis Abnormality of the neck Aplasia of the inferior half of the cerebellar vermis Cleft palate Respiratory distress Cupped ear Posteriorly rotated ears Narrow mouth Gastroesophageal reflux Neonatal hypotonia Low-set, posteriorly rotated ears Apnea Dental malocclusion Dental crowding Preauricular skin tag Poor suck Abnormality of the upper urinary tract Peripheral neuropathy Advanced eruption of teeth Cutaneous melanoma Sarcoma Melanocytic nevus Hypermelanotic macule Narrow nasal bridge Calvarial skull defect Periorbital fullness Rhabdomyosarcoma Thick hair Narrow nasal ridge Epidermal nevus Hypopigmented skin patches Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Wide nasal bridge Upslanted palpebral fissure Joint hypermobility Underdeveloped nasal alae Small nail Anonychia Melanoma Neoplasm of the skin Bifid nasal tip Hydrocephalus Blepharophimosis Joint hyperflexibility Abnormality of the hand Palpebral edema Furrowed tongue Oral synechia Hypertelorism Neoplasm Failure to thrive Short nose Subcutaneous nodule Long philtrum Prominent forehead Broad forehead Papule Pruritus Abnormality of skin pigmentation Broad nasal tip Nevus Open mouth Widow's peak Broad eyebrow Thick nail Mandibular prognathia Areflexia Agenesis of corpus callosum Respiratory failure Arthrogryposis multiplex congenita Lymphedema Centrally nucleated skeletal muscle fibers Hand clenching Agyria Brachydactyly Proteinuria Pain Dry skin Thickened skin Acanthosis nigricans Coarse hair Polycystic ovaries Precocious puberty Abnormality of the thyroid gland Prematurely aged appearance Growth hormone excess Myopathy Macronodular adrenal hyperplasia Prominent nasal septum Increased body weight Muscle weakness Hypertension Obesity Depressivity Alopecia Osteoporosis Osteopenia Proximal muscle weakness Bruising susceptibility Acne Primary hypercortisolism Emotional lability Glucose intolerance Fragile skin Increased circulating cortisol level Adrenal hyperplasia Ecchymosis Abdominal obesity Adrenocortical adenoma Moon facies Dorsocervical fat pad Aplasia/Hypoplasia of the distal phalanges of the hand



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