Abnormal facial shape, and Bulbous nose

Diseases related with Abnormal facial shape and Bulbous nose

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


Top matches:

Medium 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

Medium match X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE


X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

Medium match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

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Other less relevant matches:

Medium match KAHRIZI SYNDROME; KHRZ


Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

Medium match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Medium match XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Medium match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Medium match ACROMEGALOID FACIAL APPEARANCE SYNDROME


Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Medium match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Bulbous nose

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

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Sloping forehead Cryptorchidism Growth delay Microcephaly Intellectual disability, mild Thick lower lip vermilion Palpebral edema Everted lower lip vermilion

Rare Symptoms - Less than 30% cases


Hearing impairment Gingival overgrowth Hypertelorism Depressed nasal bridge Feeding difficulties Midface retrusion Joint hyperflexibility Wide nasal bridge Motor delay Cataract Thin vermilion border Generalized hypotonia Thick vermilion border Failure to thrive Ptosis Obesity Deeply set eye Specific learning disability Abdominal obesity Primary testicular failure Ataxia Subependymal nodules Type I lissencephaly Agyria Microphallus Abnormality of neuronal migration Lissencephaly Nystagmus Sparse body hair Increased circulating gonadotropin level Spasticity Pachygyria Heterotopia Intellectual disability, profound Narrow forehead Severe global developmental delay Postnatal growth retardation Decreased serum testosterone level Muscular hypotonia of the trunk Micropenis Agenesis of corpus callosum Dysarthria Spontaneous abortion Prominent nose Long philtrum Hypertrophic cardiomyopathy Thick nasal alae Abnormal lip morphology Anteverted nares Cardiomyopathy Hypertonia Acidosis Wide mouth Craniofacial hyperostosis Dilated cardiomyopathy Facial asymmetry Lactic acidosis Gliosis Increased serum lactate Neuronal loss in central nervous system Left ventricular noncompaction Abnormality of the tongue Long nose Clinodactyly Cafe-au-lait spot Narrow mouth Carcinoma Smooth philtrum Joint hypermobility Triangular face High pitched voice Decreased body weight Scrotal hypoplasia Large hands Synophrys Thick eyebrow Highly arched eyebrow Tapered finger Macroglossia Thickened skin Abnormality of the metacarpal bones Truncal obesity Muscular hypotonia Premature ovarian insufficiency Thrombocytopenia Iris coloboma Coloboma Kyphosis Intellectual disability, severe Flexion contracture Bird-like facies B lymphocytopenia Decrease in T cell count Recurrent viral infections Recurrent bacterial infections Lymphopenia Convex nasal ridge Decreased antibody level in blood Autoimmunity Recurrent infections Knee flexion contracture Macrotia Generalized hirsutism Abnormality of the hand Furrowed tongue Oral synechia Sensorineural hearing impairment Delayed speech and language development Intellectual disability, moderate Immunodeficiency Bilateral sensorineural hearing impairment Narrow palpebral fissure Prominent supraorbital ridges Macroorchidism Periorbital fullness Anemia Elbow flexion contracture Intellectual disability, progressive Hypergonadotropic hypogonadism Euryblepharon Gynecomastia Decreased testicular size Short foot Small hand Small for gestational age Neonatal hypotonia Hypogonadism Delayed skeletal maturation Intrauterine growth retardation Short stature Hyponasal speech Palate fistula Agenesis of lateral incisor Bilateral cleft palate Ectropion of lower eyelids Hemangioma Cleft lip Thoracic kyphosis Capillary hemangioma Low-set ears Epicanthus Hernia Upslanted palpebral fissure Protruding ear High anterior hairline Single transverse palmar crease Sparse eyelashes Sparse eyebrow Ectropion Bilateral cleft lip Bilateral cleft lip and palate Hyperalaninemia



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