Abnormal facial shape, and Short nose

Diseases related with Abnormal facial shape and Short nose

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Medium match MENTAL RETARDATION, X-LINKED 30; MRX30


MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

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Other less relevant matches:

Medium match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

Medium match MENTAL RETARDATION, X-LINKED 91; MRX91


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

Medium 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

Medium match CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

Medium match AL-RAQAD SYNDROME; ARS


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Medium match ACHONDROGENESIS TYPE 1B


Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Medium match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

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

Symptoms // Phenotype % cases
Flat face Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Generalized hypotonia Global developmental delay Anteverted nares Narrow mouth Wide nasal bridge Everted lower lip vermilion Low-set ears Growth delay Short foot Hearing impairment Absent speech Depressed nasal bridge Long philtrum Clinodactyly Epicanthus

Rare Symptoms - Less than 30% cases


Delayed speech and language development Motor delay Obesity Short stature Brachydactyly Cleft palate Round face Open mouth Aggressive behavior Upslanted palpebral fissure Hyperactivity Hypoplasia of the maxilla Microcephaly Sandal gap Thin upper lip vermilion Hypopigmentation of the skin Hyperplasia of the maxilla Joint laxity Unsteady gait Macrocephaly Neonatal hypotonia Frontal bossing Deeply set eye Coronal craniosynostosis Patellar dislocation Inability to walk Abnormal cardiac septum morphology Delayed eruption of primary teeth Carpal synostosis Epidermal nevus Narrow nasal bridge Calvarial skull defect Periorbital fullness Rhabdomyosarcoma Thick hair Narrow nasal ridge Cutaneous melanoma Prominence of the premaxilla Joint dislocation Congenital giant melanocytic nevus Nevus spillus Proptosis High forehead Short neck Genu valgum Short metacarpal Short toe Talipes equinovarus Hydrops fetalis Abnormality of cardiovascular system morphology Bicuspid aortic valve Protruding ear Coloboma Facial asymmetry Dental crowding Preauricular skin tag Sparse and thin eyebrow Sparse eyelashes Sparse eyebrow Conductive hearing impairment Cupped ear Preauricular pit Hydroureter Glossoptosis Stenosis of the external auditory canal Trismus Eyelid coloboma Abnormality of the pinna Alopecia Severe short stature Cystic hygroma Polyhydramnios Umbilical hernia Narrow chest Micromelia Abnormality of the ribs Mandibulofacial dysostosis Short thorax Disproportionate short stature Depressivity Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Melanocytic nevus Lethal skeletal dysplasia Femoral hernia Abnormal enchondral ossification Abnormality of the dentition Hypermelanotic macule Neoplasm Deep philtrum Chronic bronchitis Recurrent respiratory infections Retrognathia Respiratory tract infection Decreased antibody level in blood Short chin Agammaglobulinemia Sensorineural hearing impairment Recurrent infections Ptosis Flexion contracture Downslanted palpebral fissures Malar flattening Telecanthus Blepharophimosis Camptodactyly of finger Pneumonia Immunodeficiency High, narrow palate Macrotia Strabismus Wide mouth Downturned corners of mouth Pointed chin Narrow palpebral fissure Intellectual disability, severe Anxiety Long ear Psychosis Drooling Delayed gross motor development Schizophrenia Agitation Restlessness Short attention span Wide nose Bilateral sensorineural hearing impairment Sarcoma Abnormality of skin pigmentation Failure to thrive Hydrocephalus Prominent forehead Broad forehead Papule Pruritus Broad nasal tip Short 5th finger Full cheeks Nevus Subcutaneous nodule Generalized hirsutism Neoplasm of the skin Hypopigmented skin patches Melanoma Macrodontia Cubitus valgus Interphalangeal joint contracture of finger Ulnar deviation of the hand or of fingers of the hand Depressed nasal ridge Narrow face Congenital sensorineural hearing impairment Ulnar deviation of finger Abnormality of the wrist Ulnar deviation of the hand Lacrimal duct atresia Ulnar deviation of the wrist Severe muscular hypotonia Aplasia/Hypoplasia involving the nose Limited wrist movement Muscular hypotonia Intellectual disability, mild Severe global developmental delay Small hand Low posterior hairline Lower eyelid coloboma



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