Depressed nasal bridge, and Hirsutism

Diseases related with Depressed nasal bridge and Hirsutism

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


Top matches:

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

High 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

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

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Other less relevant matches:

High match COFFIN-SIRIS SYNDROME 3; CSS3


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 SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (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 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

High match X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE


X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

High match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

High match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

High match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

High match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

High match LEPRECHAUNISM


Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Hirsutism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Hirsutism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertrichosis

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Coarse facial features Anteverted nares Thick eyebrow Short neck Wide mouth Synophrys Short foot Intrauterine growth retardation Hypertelorism Generalized hypotonia Hyperactivity Behavioral abnormality High palate Downturned corners of mouth Sleep disturbance Thin vermilion border Long eyelashes Growth delay Deeply set eye Aggressive behavior Low-set ears Abnormal facial shape Dysphagia Delayed skeletal maturation Scoliosis Strabismus Feeding difficulties Absent speech

Rare Symptoms - Less than 30% cases


Bulbous nose Dysostosis multiplex Asymmetric septal hypertrophy Heparan sulfate excretion in urine Cryptorchidism Feeding difficulties in infancy Thickened ribs Ovoid thoracolumbar vertebrae Cellular metachromasia Cognitive impairment Thick vermilion border Hernia Diarrhea Malar flattening Macrotia Umbilical hernia Poor speech Epicanthus Nail dysplasia Abnormality of cardiovascular system morphology Generalized hirsutism Long philtrum Frontal bossing Brachydactyly Astigmatism Postnatal growth retardation Growth abnormality Myopia Visual impairment Wide nose Macroglossia Dandy-Walker malformation Sparse scalp hair Splenomegaly Abnormal corpus callosum morphology Thick nasal alae Aplasia/Hypoplasia of the distal phalanges of the hand Coarse hair Hepatomegaly Delayed speech and language development Ptosis Brachycephaly Thin upper lip vermilion Recurrent upper respiratory tract infections Gastroesophageal reflux Small hand Midface retrusion Thick lower lip vermilion Prominent forehead Joint stiffness Inguinal hernia Recurrent infections Drooling Skeletal muscle atrophy Failure to thrive Progressive hearing impairment Dense calvaria Motor delay Motor deterioration Loss of speech Restlessness Everted lower lip vermilion Chronic diarrhea Dolichocephaly Respiratory tract infection Difficulty walking Kyphoscoliosis Rod-cone dystrophy Hepatosplenomegaly Hepatic fibrosis Prominent nipples Severe failure to thrive Reduced subcutaneous adipose tissue Adipose tissue loss Lipoatrophy Severe intrauterine growth retardation Hearing abnormality Elfin facies Postprandial hyperglycemia Thickened nuchal skin fold Long foot Decreased muscle mass Concave nasal ridge Female pseudohermaphroditism Small face Ovarian cyst Fasting hypoglycemia Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Long penis Abnormality of the abdominal wall Hypermelanotic macule Hyperglycemia Recurrent respiratory infections Epidermal acanthosis Severe short stature Hyperkeratosis Proptosis Hypoglycemia Low-set, posteriorly rotated ears Small for gestational age High, narrow palate Abdominal distention Type II diabetes mellitus Cholestasis Large hands Gingival overgrowth Insulin resistance Gynecomastia Acanthosis nigricans Cutis laxa Cachexia Hyperinsulinemia Precocious puberty Clitoral hypertrophy Glucose intolerance Severe global developmental delay Dysarthria Leukemia Sparse hair Delayed eruption of permanent teeth Lacrimal duct aplasia Macrocephaly Upslanted palpebral fissure Micropenis Pes planus Nail dystrophy Abnormal heart morphology Dry skin Hypopigmentation of the skin Wide intermamillary distance Low posterior hairline Increased body weight Prominent supraorbital ridges Broad hallux Cerebellar hypoplasia Inverted nipples Acute myeloid leukemia Muscular hypotonia Pain Talipes equinovarus Intellectual disability, severe Kyphosis Hip dislocation Intellectual disability, profound Bruxism Sensorineural hearing impairment Agitation Hypoplasia of the corpus callosum Constipation Posteriorly rotated ears Anxiety Abnormality of the pinna Attention deficit hyperactivity disorder Broad forehead Full cheeks Myeloid leukemia Broad neck Flexion contracture Pulmonic stenosis Micrognathia Cleft palate Abnormality of the dentition Clinodactyly Clinodactyly of the 5th finger Abnormal cardiac septum morphology Prominent nasal bridge Smooth philtrum Infra-orbital crease Highly arched eyebrow Low anterior hairline Finger clinodactyly Proximal placement of thumb Cutis marmorata Thick hair Limited elbow movement Frontal hirsutism Pseudohypoparathyroidism Echolalia Abnormality of the skeletal system Broad face Spotty hypopigmentation Abnormal hair whorl Almond-shaped palpebral fissure Regional abnormality of skin Hypointensity of cerebral white matter on MRI Wide nasal bridge Obesity Underdeveloped supraorbital ridges Retrognathia Broad nasal tip Delayed myelination Short metacarpal Short palpebral fissure Laryngomalacia Short metatarsal Delayed ability to walk Asymmetry of the breasts



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