Abnormal facial shape, and Blepharophimosis

Diseases related with Abnormal facial shape and Blepharophimosis

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Blepharophimosis 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 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

Low 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

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Other less relevant matches:

Low match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Low match RAPADILINO SYNDROME


RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Cleft palate
  • High palate


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPADILINO SYNDROME

Low 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

Low 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

Low match TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME


Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Low match CONGENITAL TUFTING ENTEROPATHY


Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Seizures 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 Blepharophimosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Wide nasal bridge Micrognathia Narrow palpebral fissure Hearing impairment Global developmental delay Bulbous nose Everted lower lip vermilion Palpebral edema Thick eyebrow Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Clinodactyly Narrow mouth Telecanthus Hyperactivity Intellectual disability, severe High, narrow palate Small for gestational age Narrow face Strabismus Joint hyperflexibility High palate Diarrhea Short chin Synophrys Long nose Ptosis Sensorineural hearing impairment Delayed speech and language development Long palpebral fissure Microcephaly Sloping forehead Bilateral sensorineural hearing impairment Thick lower lip vermilion Prominent nose Short philtrum Sparse hair Smooth philtrum Gingival overgrowth Long face Premature birth Umbilical hernia Polyhydramnios Overgrowth Abnormal cardiac septum morphology Round face Low-set ears Mandibular prognathia Abnormality of the tongue Highly arched eyebrow Tapered finger Macroglossia Thickened skin Abnormality of the metacarpal bones Large hands Craniofacial hyperostosis Thick nasal alae Hernia Abnormal lip morphology Scoliosis Deep philtrum Macrocephaly Ventricular septal defect Anteverted nares Hydrocephalus Atrial septal defect Tall stature Hypotelorism Short columella Brisk reflexes Spasticity Hyperreflexia Dysarthria Myopathy Abnormality of the dentition Hypertonia Elevated serum creatine phosphokinase Progressive microcephaly Secretory diarrhea Pes cavus Muscular hypotonia of the trunk Postnatal growth retardation Prominent nasal bridge Underdeveloped nasal alae Esotropia Eczema Vaginal fistula Intractable diarrhea Maternal diabetes Anal atresia Everted upper lip vermilion Premature rupture of membranes Failure to thrive Midface retrusion Posteriorly rotated ears Arthritis Broad-based gait Thick upper lip vermilion Trichorrhexis nodosa Abdominal distention Sepsis Abnormal intestine morphology Celiac disease Underdeveloped supraorbital ridges Choanal stenosis Villous atrophy Coloboma Absent radius Intellectual disability, mild Ulnar deviation of the hand Hypoplasia of the maxilla Interphalangeal joint contracture of finger Depressed nasal ridge Congenital sensorineural hearing impairment Ulnar deviation of finger Abnormality of the wrist Lacrimal duct atresia Flat face Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Aplasia/Hypoplasia involving the nose Limited wrist movement Pain Motor delay Wide nose Camptodactyly of finger Deeply set eye Macrotia Thick vermilion border Generalized hirsutism Abnormality of the hand Furrowed tongue Oral synechia Obesity Intellectual disability, moderate Malar flattening Specific learning disability Prominent supraorbital ridges Macroorchidism Periorbital fullness Flexion contracture Short nose Thin upper lip vermilion Neonatal hypotonia Scrotal hypoplasia Feeding difficulties Patellar hypoplasia Aplasia/Hypoplasia of the patella Mottled pigmentation Slender nose Stiff interphalangeal joints Cryptorchidism Long philtrum Aplasia/Hypoplasia of the radius Carcinoma Joint hypermobility Thin vermilion border Triangular face Decreased body weight Cafe-au-lait spot Patellar aplasia Absent thumb Wide mouth Language impairment Broad forehead Hypermetropia Poor speech Astigmatism Broad nasal tip Fine hair Long fingers Hypoplasia of the radius Self-mutilation Fair hair Tics Long toe Inappropriate laughter Cleft palate Joint dislocation Achilles tendon contracture



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Inguinal hernia, related diseases and genetic alterations Edema and Conductive hearing impairment, related diseases and genetic alterations Cryptorchidism and Congenital cataract, related diseases and genetic alterations Hypertension and Hyperglycemia, related diseases and genetic alterations Hypertelorism and Epileptic encephalopathy, related diseases and genetic alterations

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