Abnormality of the skeletal system, and Blepharophimosis

Diseases related with Abnormality of the skeletal system and Blepharophimosis

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Blepharophimosis that can help you solving undiagnosed cases.


Top matches:

Low match CONGENITAL PTOSIS


Congenital ptosis is characterized by superior eyelid drop present at birth.

Related symptoms:

  • Ptosis
  • Blepharophimosis
  • Ophthalmoplegia
  • External ophthalmoplegia
  • Congenital ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL PTOSIS

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match ADAMS-OLIVER SYNDROME 3; AOS3


Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Motor delay
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 3; AOS3

Low match CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES


Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).CFEOM2 (OMIM ), an autosomal recessive disorder caused by mutation in the ARIX gene (OMIM ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (OMIM ) is caused by mutation in the TUBB3 gene (OMIM ) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (OMIM ) on chromosome 12q12; and CFEOM3C (OMIM ) maps to chromosome 13q.CFEOM4 (OMIM ), also known as Tukel syndrome, maps to chromosome 21q.CFEOM5 (OMIM ) is caused by mutation in the COL25A1 gene (OMIM ) on chromosome 4q25.See also NOMENCLATURE below.

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES Is also known as feom|feom1 locus|ophthalmoplegia, congenital|blepharoptosis with absent eye movements

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Ptosis
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

Low match TRISOMY XQ28


Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.

TRISOMY XQ28 Is also known as distal duplication xq|telomeric duplication xq

Related symptoms:

  • Global developmental delay
  • Short stature
  • Cryptorchidism
  • Ptosis
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about TRISOMY XQ28

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

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

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Blepharophimosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Ptosis Uncommon - Between 30% and 50% cases
Narrow palpebral fissure Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormality of the skeletal system and Blepharophimosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, severe High, narrow palate Everted lower lip vermilion Abnormal facial shape

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Macrotia Astigmatism Strabismus Motor delay Wide nasal bridge Poor speech Depressed nasal bridge Short stature Hypertelorism Bilateral sensorineural hearing impairment Self-mutilation Congenital ptosis Bulbous nose Ophthalmoplegia Sensorineural hearing impairment Palpebral edema Coarse facial features Wide nose Hypoplasia of the maxilla Interphalangeal joint contracture of finger Depressed nasal ridge Narrow face Short chin Patellar hypoplasia Congenital sensorineural hearing impairment Ulnar deviation of finger Abnormality of the wrist Ulnar deviation of the hand Lacrimal duct atresia Flat face Narrow mouth Camptodactyly of finger Telecanthus Ulnar deviation of the hand or of fingers of the hand Clinodactyly Malar flattening Short nose Aplasia/Hypoplasia of the patella Mottled pigmentation Flexion contracture Slender nose Micrognathia Hernia of the abdominal wall Abnormality of chromosome segregation Patellar aplasia Aplasia/Hypoplasia involving the nose Ulnar deviation of the wrist Fine hair Diarrhea Joint dislocation High palate Cleft palate Inappropriate laughter Long toe Hypoplasia of the radius Tics Absent thumb Fair hair Long palpebral fissure Long fingers Language impairment Aplasia/Hypoplasia of the radius Broad nasal tip Long face Hypermetropia Broad forehead Short philtrum Severe global developmental delay Sparse hair Wide mouth Neonatal hypotonia Absent radius Deeply set eye Thin upper lip vermilion Hyperactivity Pain Generalized hypotonia Limited wrist movement Tented upper lip vermilion Superior rectus atrophy Neurological speech impairment Macroorchidism Microcephaly Kinetic tremor Hand tremor Narrow palate Waddling gait Small hand Inability to walk Thick eyebrow Aggressive behavior Mandibular prognathia Absent speech Long philtrum Tremor Periorbital fullness Prominent supraorbital ridges Abnormal heart morphology Thick lower lip vermilion Specific learning disability Intellectual disability, moderate Obesity Delayed speech and language development Seizures Oral synechia Furrowed tongue Abnormality of the hand Generalized hirsutism Gingival overgrowth Thick vermilion border Joint hyperflexibility External ophthalmoplegia Syndactyly Short distal phalanx of finger Joint stiffness Bilateral ptosis Delayed skeletal maturation Pectus excavatum Hypospadias Gait disturbance Epicanthus Cryptorchidism Secondary esotropia Sensory exotropia Levator palpebrae superioris atrophy Compensatory chin elevation Restrictive external ophthalmoplegia Congenital fibrosis of extraocular muscles Abnormal cranial nerve morphology Progressive gait ataxia Diplopia Short palpebral fissure Myopathy Short metatarsal 2-3 toe syndactyly Aplasia cutis congenita Absent toe Ataxia Optic atrophy Cerebellar atrophy Exotropia Depressivity Gait ataxia Progressive cerebellar ataxia Esotropia Pigmentary retinopathy Amblyopia Stiff interphalangeal joints



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Brachycephaly, related diseases and genetic alterations Feeding difficulties and Retrognathia, related diseases and genetic alterations Hepatomegaly and Sparse hair, related diseases and genetic alterations Delayed speech and language development and Atrial septal defect, related diseases and genetic alterations Spasticity and Polyhydramnios, related diseases and genetic alterations Muscular hypotonia and Atrial septal defect, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more