Abnormal facial shape, and Coarse facial features

Diseases related with Abnormal facial shape and Coarse facial features

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45


Related symptoms:

  • Intellectual disability
  • Seizures
  • Wide nasal bridge
  • Coarse facial features
  • Deeply set eye


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45

Medium match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

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Other less relevant 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 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2


Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis, is a rare genetic disease that affects the skin and bones. PHO is characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin manifestations that include thickened facial skin, a thickened scalp, and coarse facial features (summary by Zhang et al., 2012).For a discussion of genetic heterogeneity of PHO, see PHOAR1 (OMIM ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2 Is also known as pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive

Related symptoms:

  • Abnormal facial shape
  • Patent ductus arteriosus
  • Hyperhidrosis
  • Arthralgia
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2

Medium match PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY


Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.

PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY Is also known as primary immunodeficiency syndrome with short stature

Related symptoms:

  • Short stature
  • Immunodeficiency
  • Coarse facial features
  • Neutropenia
  • Hypopigmentation of the skin


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY

Medium match MENTAL RETARDATION, X-LINKED 103; MRX103


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

Medium match X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION


X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1 ) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015).

X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION Is also known as x-linked acrogigantism|familial infantile gigantism due to xq26 microduplication|familial infantile gigantism due to dup(x)q(26)|xlag|chromosome xq26 microduplication syndrome|x-lag (x-linked acrogigantism) due to dup(x)q(26)

Related symptoms:

  • Neoplasm
  • Coarse facial features
  • Overgrowth
  • Ventricular hypertrophy
  • Tall stature


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION

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 ATHYREOSIS


Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about ATHYREOSIS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Coarse facial features

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Bulbous nose Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Palpebral edema Blepharophimosis Ventriculomegaly Long foot Thick lower lip vermilion Large hands Intellectual disability, moderate Delayed speech and language development Generalized hypotonia Thick vermilion border Prominent supraorbital ridges Everted lower lip vermilion Precocious puberty Anteverted nares Absent speech Micropenis Pituitary adenoma Growth hormone excess Hypopituitarism Polyphagia Overgrowth Ventricular hypertrophy Acanthosis nigricans Short palm Neoplasm Accelerated skeletal maturation Wide mouth Polymicrogyria Tall stature Body odor Sleep apnea Specific learning disability Snoring Feeding difficulties Hypersomnia Large fontanelles Abnormality of the face Macroglossia Abdominal distention Hypothyroidism Constipation Intellectual disability, severe Fatigue Muscular hypotonia Hearing impairment Muscle weakness Growth delay Periorbital fullness Macroorchidism Narrow palpebral fissure Bilateral sensorineural hearing impairment Recurrent bronchopulmonary infections Macrotia Obesity Sensorineural hearing impairment Cryptorchidism Folliculitis Partial albinism Small for gestational age Arachnoid cyst Intellectual disability, profound Cerebral atrophy Strabismus Failure to thrive Microcephaly Dental crowding Broad nasal tip Kyphoscoliosis Joint hyperflexibility Prominent forehead Intellectual disability, mild Abnormality of the skeletal system Motor delay Hypertelorism Scoliosis Thick eyebrow Deeply set eye Wide nasal bridge Appendicular hypotonia Gingival overgrowth IgM deficiency Elevated erythrocyte sedimentation rate Hypopigmentation of hair Hypopigmentation of the skin Neutropenia Immunodeficiency Subperiosteal bone formation Periostosis Cutis gyrata of scalp Seborrheic dermatitis Osteolytic defects of the phalanges of the hand Hyperostosis Generalized hirsutism Clubbing Redundant skin Thickened skin Arthralgia Hyperhidrosis Patent ductus arteriosus Oral synechia Furrowed tongue Abnormality of the hand Thyroid agenesis



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