Abnormal facial shape, and Diabetes mellitus

Diseases related with Abnormal facial shape and Diabetes mellitus

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


Top matches:

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4


Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 Is also known as chromosome 19p13 duplication syndrome|cushing syndrome, adrenal, due to ppnad4

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Obesity
  • Depressivity
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4

Low match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2


Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Low match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

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Other less relevant matches:

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match GLYCEROL KINASE DEFICIENCY; GKD


Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

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 SECKEL SYNDROME 10; SCKL10


Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Low match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Low match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Low match PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME


Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Diabetes mellitus

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Global developmental delay 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 Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Microcephaly Intrauterine growth retardation Growth delay

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Cerebellar hypoplasia Anteverted nares Hyperlipidemia Hypertriglyceridemia Maternal diabetes Long philtrum Muscle weakness Brachydactyly Mandibular prognathia Muscular dystrophy Hypoglycemia Acanthosis nigricans Myopathy Strabismus Hypertelorism Short chin Type II diabetes mellitus Generalized hypotonia Failure to thrive Macrocephaly Frontal bossing Posteriorly rotated ears Coarse facial features Hypothyroidism Proximal muscle weakness Alopecia Glucose intolerance Delayed speech and language development Micrognathia Obesity Osteoporosis Dysarthria Pain Muscular hypotonia Ataxia Insulin-resistant diabetes mellitus Skin tags Tremor Elevated circulating follicle stimulating hormone level Broad distal phalanx of finger Skeletal muscle atrophy Cerebellar atrophy Slender long bone Glycosuria Elevated circulating luteinizing hormone level Cone-shaped epiphysis Gait disturbance Aortic aneurysm Dysphagia Areflexia Hyporeflexia Elevated serum creatine phosphokinase Pneumonia Wide nasal base Acute pancreatitis Broad columella Delayed myelination Myopia Short nose Rod-cone dystrophy Upslanted palpebral fissure Glaucoma High forehead Thin upper lip vermilion Difficulty walking Low-set, posteriorly rotated ears Sparse hair Broad nasal tip Short palpebral fissure Intellectual disability, mild Motor delay Visual impairment Broad thumb Sensorineural hearing impairment Progressive hearing impairment Corneal dystrophy Nystagmus Hearing impairment Elevated serum alanine aminotransferase Congenital hypothyroidism Elevated serum aspartate aminotransferase Abdominal aortic aneurysm Deeply set eye Intention tremor Myalgia Pectus carinatum Tongue atrophy Limb tremor Motor neuron atrophy Exercise-induced muscle cramps Erectile abnormalities Laryngospasm Proximal spinal muscular atrophy Flexion contracture Optic atrophy Talipes equinovarus Apnea Abnormality of the pinna Joint stiffness Talipes Hyperlipoproteinemia Triangular face Convex nasal ridge Optic nerve hypoplasia Hyperglycemia Bilateral talipes equinovarus Reduced subcutaneous adipose tissue Severe intrauterine growth retardation Overlapping fingers Secundum atrial septal defect Ileus Neonatal insulin-dependent diabetes mellitus Meconium ileus Cerebellar agenesis Decreased LDL cholesterol concentration Testicular atrophy Limb muscle weakness Spinal muscular atrophy Infertility Facial asymmetry Sensory neuropathy Neurodegeneration Muscle cramps Abnormal cerebellum morphology Microretrognathia Progressive muscle weakness Gynecomastia Fasciculations Aspiration Dysphonia Limb-girdle muscular dystrophy Calf muscle hypertrophy Kinetic tremor Amyotrophic lateral sclerosis Impotence Decreased fertility Bulbar palsy Muscle fibrillation Axonal loss Abnormality of lipid metabolism Overweight Abnormality of the mouth Hand tremor Aspiration pneumonia Bulbar signs Distal lower limb amyotrophy Oligospermia Metaphyseal widening Hernia Ventricular hypertrophy Thickened skin Hemiparesis Heterotopia Pachygyria Spastic tetraparesis Lissencephaly Impulsivity Cortical gyral simplification Abnormal corpus callosum morphology Schizencephaly Abnormality of the dentition Proteinuria Dry skin Generalized hirsutism Thick lower lip vermilion Coarse hair Polycystic ovaries Precocious puberty Abnormality of the thyroid gland Prematurely aged appearance Growth hormone excess Thick nail Long penis Advanced eruption of teeth Abnormality of the upper urinary tract Abnormality of the abdominal wall Female pseudohermaphroditism Tetraparesis Decreased fetal movement Diarrhea Adrenocortical adenoma Depressivity Osteopenia Bruising susceptibility Hirsutism Increased body weight Acne Emotional lability Fragile skin Increased circulating cortisol level Adrenal hyperplasia Ecchymosis Abdominal obesity Moon facies Sloping forehead Dorsocervical fat pad Primary hypercortisolism Macronodular adrenal hyperplasia Hyperreflexia Wide nasal bridge Hypoplasia of the corpus callosum Intellectual disability, severe Absent speech Hyperactivity Aggressive behavior Intellectual disability, moderate Polymicrogyria Hepatomegaly Splenomegaly Retinal detachment Round face Adrenocortical hypoplasia Increased urinary glycerol Hyperglycerolemia Scoliosis Ventricular septal defect Hydrocephalus Atrial septal defect Polyhydramnios Umbilical hernia Blepharophimosis Abnormal cardiac septum morphology Thick eyebrow Premature birth Episodic vomiting Overgrowth Tall stature Narrow palpebral fissure Deep philtrum Long palpebral fissure Short columella Everted upper lip vermilion Premature rupture of membranes Congestive heart failure Dilatation Severe short stature Hepatic steatosis Congenital adrenal hypoplasia Adrenal hypoplasia Clinodactyly Relative macrocephaly Respiratory failure Proptosis Camptodactyly Autoimmunity Dolichocephaly Malabsorption Asthma Hepatitis Abnormal lung morphology Chronic diarrhea Type I diabetes mellitus Abnormal intestine morphology Prominent occiput Ketoacidosis Chronic lung disease Interstitial pneumonitis Cryptorchidism Vomiting Acidosis Small for gestational age Lethargy Downturned corners of mouth Metabolic acidosis Coma Adrenal insufficiency Loss of consciousness Pathologic fracture Aplasia/Hypoplasia of the pancreas



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Sepsis, related diseases and genetic alterations Hydrocephalus and Weight loss, related diseases and genetic alterations Ptosis and Paresthesia, related diseases and genetic alterations Micrognathia and Vertigo, related diseases and genetic alterations Sensorineural hearing impairment and Malar flattening, related diseases and genetic alterations

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