Abnormal facial shape, and Delayed skeletal maturation

Diseases related with Abnormal facial shape and Delayed skeletal maturation

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


Top matches:

Low match OVARIAN DYSGENESIS 7; ODG7


Ovarian dysgenesis-7 is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen et al., 2018).

Related symptoms:

  • Abnormal facial shape
  • Ptosis
  • Delayed skeletal maturation
  • Hypogonadism
  • Thin upper lip vermilion


SOURCES: OMIM MENDELIAN

More info about OVARIAN DYSGENESIS 7; ODG7

Low match COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY


Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Immunodeficiency
  • Delayed skeletal maturation
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY

Low match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

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Other less relevant matches:

Low 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

Low match SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Strabismus
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION

Low match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Low match MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA


MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Low match BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME


Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs|platyspondyly with amelogenesis imperfecta|sthag6, formerly|tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|verloes-bourguignon syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Myopia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME

Low match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Low match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Delayed skeletal maturation

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Delayed skeletal maturation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thin vermilion border

Rare Symptoms - Less than 30% cases


High pitched voice Long face Mitral valve prolapse Global developmental delay Generalized hypotonia Muscular hypotonia Cryptorchidism Intrauterine growth retardation Small hand Osteoarthritis Truncal obesity Ptosis Microcephaly Strabismus Hypoplasia of the radius Microdontia Delayed eruption of teeth Thick eyebrow Myopia Severe short stature Skeletal dysplasia Reduced number of teeth Intellectual disability, mild Increased circulating gonadotropin level Hypogonadism Delayed puberty Deeply set eye Hypergonadotropic hypogonadism Abnormality of the dentition Dilatation Mandibular prognathia Osteopenia Platyspondyly Arachnodactyly Achromatopsia Blue cone monochromacy Short palm Dyschromatopsia Hypoplasia of the maxilla Cutis laxa Hypertrichosis Hypoplasia of dental enamel Widely spaced teeth Sandal gap Prominent glabella Optic atrophy Scoliosis Upslanted palpebral fissure Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Abnormality of skeletal physiology Clinodactyly Clinodactyly of the 5th finger Short metacarpal Patellar aplasia Convex nasal ridge Abnormality of the ribs Finger clinodactyly Hyposegmentation of neutrophil nuclei Radioulnar synostosis Mesomelia Cortical gyral simplification Oligodontia Dislocated radial head Fine hair Epicanthus Underdeveloped supraorbital ridges Blue sclerae Depressed nasal ridge Brachycephaly Hypohidrosis Short toe Syndactyly Hypercholesterolemia Prematurely aged appearance Abnormality of the elbow Hypoglycemia Abnormality of the skull Abnormality of the endocrine system Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Hypertelorism Long philtrum Blindness Short neck Hypoplasia of penis Reduced visual acuity Aortic aneurysm Single transverse palmar crease Agenesis of permanent teeth Narrow forehead Progressive visual loss Amelogenesis imperfecta Large forehead Selective tooth agenesis Thoracic aortic aneurysm Abdominal aortic aneurysm Narrow vertebral interpedicular distance Proptosis Micromelia Intervertebral space narrowing Herniation of intervertebral nuclei Motor delay Abnormality of the knee Facial asymmetry Hypermetropia Postnatal growth retardation High forehead Low back pain Joint stiffness Abnormality of tibia morphology Pulmonic stenosis Mastoiditis Low-set ears High palate Arrhythmia Abnormality of the pinna Short philtrum Broad forehead Dolichocephaly Joint hyperflexibility Gastritis Prominent nose Abnormality of the skin Dental crowding Aortic valve stenosis Tricuspid regurgitation Abnormal heart valve morphology Failure to thrive Obesity Cheilitis Recurrent aphthous stomatitis Small for gestational age Pneumonia Thin upper lip vermilion Polyneuropathy Underdeveloped nasal alae Amenorrhea Hypotelorism Primary amenorrhea Hypoplasia of the uterus Immunodeficiency Osteoporosis Recurrent viral infections Inflammatory abnormality of the skin Bronchiectasis Meningitis Recurrent pneumonia Recurrent bacterial infections Clubbing Gingivitis Esophagitis Abnormality of the gastrointestinal tract Neonatal hypotonia Bulbous nose Exostoses Short thumb Gait disturbance Frontal bossing Midface retrusion Arthralgia Arthritis Hyperlordosis Waddling gait Lumbar hyperlordosis Accelerated skeletal maturation Pain Growth abnormality Back pain Mild short stature Broad hallux Limited elbow extension Disproportionate short stature Proportionate short stature Joint swelling Depressed nasal bridge Bilateral ulnar hypoplasia Short foot Intellectual disability, severe Decreased testicular size Specific learning disability Gynecomastia Premature ovarian insufficiency Sparse body hair Decreased serum testosterone level Abdominal obesity Primary testicular failure Micropenis Supernumerary ribs Narrow mouth Hypoplasia of the ulna Absent thumb Oligodactyly Fibular hypoplasia Aplasia/Hypoplasia of the radius Short tibia Short femur Patellar hypoplasia Nonprogressive visual loss



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Overgrowth, related diseases and genetic alterations Brachydactyly and Dyspnea, related diseases and genetic alterations Peripheral neuropathy and Jaundice, related diseases and genetic alterations Cleft palate and Protruding ear, related diseases and genetic alterations Sensorineural hearing impairment and Underdeveloped nasal alae, related diseases and genetic alterations

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