Abnormal facial shape, and Type I diabetes mellitus

Diseases related with Abnormal facial shape and Type I diabetes mellitus

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


Top matches:

Medium 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

Medium match SCALP-EAR-NIPPLE SYNDROME


Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Medium match RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1


RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

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Other less relevant matches:

Medium match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Medium match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium match ALLAN-HERNDON-DUDLEY SYNDROME


Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Medium match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Medium match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Medium match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Type I diabetes mellitus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Type I diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Epicanthus Microcephaly Seizures Hearing impairment Ataxia Nystagmus Hypogonadism Rigidity Cataract Dysarthria Gait ataxia Intrauterine growth retardation Anteverted nares Flexion contracture Tremor Growth delay Hypertonia Hypoplasia of the corpus callosum Congenital cataract Cryptorchidism Short stature Depressed nasal bridge Hypertelorism Ptosis Macrotia Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Arachnodactyly Skeletal muscle atrophy Short metacarpal Round face Joint stiffness Hyperactivity Malar flattening Abnormality of the skeletal system Muscular hypotonia Strabismus Muscle weakness High palate Kyphosis Asplenia Intellectual disability, moderate Smooth philtrum Renal dysplasia Dandy-Walker malformation Microcornea Polymicrogyria Hyporeflexia Pes planus Short metatarsal Cerebral calcification Scoliosis Alopecia Opacification of the corneal stroma Progressive cerebellar ataxia Neurological speech impairment Limb ataxia Truncal ataxia Decreased antibody level in blood Glaucoma Hyperactive deep tendon reflexes Reduced visual acuity Babinski sign Hypergonadotropic hypogonadism Hand tremor Cerebellar atrophy Gait disturbance Pectus excavatum Hyperreflexia Peripheral neuropathy Kyphoscoliosis Adrenal insufficiency Myopathic facies Muscle stiffness Cerebellar hypoplasia Brachydactyly Coloboma Recurrent urinary tract infections Autoimmunity Malabsorption Asthma Sparse hair Abnormality of the fingernails Hepatitis Chronic diarrhea Fine hair Proptosis Renal hypoplasia Hypotelorism Hypertension Renal insufficiency Mandibular prognathia Abnormality of the kidney Abnormality of the pinna Camptodactyly Protruding ear Failure to thrive Diarrhea Hepatomegaly Low-set ears Narrow forehead Long face Avascular necrosis of the capital femoral epiphysis Autophagic vacuoles Muscle cramps Paraplegia Nausea Nausea and vomiting Skin rash Hypotrichosis Otitis media Inability to walk Retinopathy Abnormality of the liver Pallor Photophobia Aplasia/Hypoplasia involving the skeletal musculature Mild global developmental delay Pigmentary retinopathy Hypotension External genital hypoplasia Spastic paraplegia Abnormality of the metacarpal bones Abnormality of the foot Constriction of peripheral visual field Dysphonia Cubitus valgus Cholelithiasis Congenital muscular dystrophy Hypopigmented skin patches Rod-cone dystrophy Abnormality of movement Rimmed vacuoles Hypocalcemia Centrally nucleated skeletal muscle fibers Sinusitis Hypoplasia of dental enamel Dehydration Abnormality of finger Muscle fiber necrosis Constipation Abnormal lactate dehydrogenase activity Intellectual disability, progressive Increased serum lactate Metatarsus valgus Hallux valgus Abnormality of the cerebellar vermis Athetosis CNS hypomyelination Poor head control Drooling Abnormal levels of creatine kinase in blood Bowel incontinence Bilateral single transverse palmar creases Narrow face Clonus Leukodystrophy Involuntary movements Choreoathetosis Open mouth Interphalangeal joint contracture of finger Aphasia Urinary incontinence Spastic tetraplegia Cerebellar cortical atrophy Vomiting Visual impairment Anemia Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Hypoplasia of the musculature Muscle flaccidity Delayed CNS myelination Abnormality of the neck Macroorchidism Hypoplasia of the zygomatic bone Central hypotonia Tetraplegia Biparietal narrowing Generalized muscle weakness Generalized amyotrophy Rotary nystagmus Central adrenal insufficiency Diabetes insipidus Retinal detachment Optic nerve hypoplasia Narrow palate Exotropia Increased proinsulin:insulin ratio Amblyopia Dental crowding Choanal atresia Optic atrophy Myopathy Hypopigmentation of the skin Cerebral atrophy Bilateral ptosis Falls Recurrent infections Attention deficit hyperactivity disorder Areflexia Muscular hypotonia of the trunk High forehead Micropenis Agenesis of corpus callosum Elevated serum creatine phosphokinase Visual loss Anosmia Ectopia lentis Severe short stature Action tremor Macular hypoplasia Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Hypoplasia of the fovea Nephroblastoma Hypoplasia of the iris Limb hypertonia Aphakia Lumbar kyphosis Aplasia/Hypoplasia of the macula Hypoplasia of the antihelix Aniridia Hypopituitarism Albinism Anophthalmia Microphthalmia Blindness Infantile muscular hypotonia Macular atrophy Antinuclear antibody positivity Short palm Adrenal hyperplasia Chronic sinusitis Increased circulating cortisol level Hypoparathyroidism Vitiligo Primary adrenal insufficiency Thyroiditis Metaphyseal dysplasia Abnormality of the thyroid gland Abnormality of the cerebral vasculature Dyskinesia Hip dysplasia Specific learning disability Hypertrichosis Progressive muscle weakness Short thumb Sensorimotor neuropathy Coxa valga Sandal gap Vascular tortuosity Chronic mucocutaneous candidiasis Achalasia Cerebral cortical atrophy Camptodactyly of finger Pain Deeply set eye Neoplasm Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Salt craving Chronic active hepatitis Pectus carinatum Hip dislocation Chronic atrophic gastritis Muscular dystrophy Tetany Abnormality of calcium-phosphate metabolism Synophrys Female hypogonadism Chronic hepatitis Alopecia areata Keratoconjunctivitis Gastritis Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Severe global developmental delay Sensorineural hearing impairment Irritability Duplication of renal pelvis Stage 5 chronic kidney disease Jaundice Acidosis Polydactyly Abnormal heart morphology Patent ductus arteriosus Atrial septal defect Respiratory insufficiency Short neck Abnormality of the scalp Hepatic failure Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Cirrhosis Pulmonary hypoplasia Absent nipple Polysplenia Multiple glomerular cysts Glutaric acidemia Pancreatic fibrosis Potter facies Portal fibrosis Hepatic cysts Pancreatic cysts Short sternum Bile duct proliferation Biliary cirrhosis Enlarged kidney Postaxial polydactyly Preauricular pit Polycystic kidney dysplasia Spontaneous abortion Situs inversus totalis Aortic valve stenosis Hepatic fibrosis Cholestasis Oligohydramnios Intestinal malrotation Renal cyst Ureteral duplication Aplasia/Hypoplasia of the nipples Pancreatic dysplasia Prominent occiput Finger syndactyly Microtia Blepharophimosis Telecanthus Hyperhidrosis Syndactyly Abnormality of the dentition Myopia Interstitial pneumonitis Chronic lung disease Relative macrocephaly Dry skin Abnormal intestine morphology Short chin Abnormal lung morphology Dolichocephaly Respiratory failure Posteriorly rotated ears Clinodactyly Splenomegaly Frontal bossing Macrocephaly Nail dystrophy Iris coloboma Abnormality of the endocrine system Cupped ear Eyelid coloboma Abnormality of the antihelix Short columella Palpebral edema Hypoplastic nipples Aplasia cutis congenita Narrow nasal bridge Multiple lipomas Agenesis of permanent teeth 2-3 toe syndactyly Abnormality of the thorax Delayed eruption of teeth Abnormality of the urinary system Cutaneous syndactyly Narrow palpebral fissure Abnormality of the nail Abnormality of the hair Hypohidrosis Renal agenesis Abnormality of the skin Nail dysplasia Vesicoureteral reflux Ureteral atresia Delayed speech and language development Feeding difficulties in infancy Parietal cortical atrophy Dysmetria Delayed puberty Small for gestational age Hyperlordosis Narrow mouth Delayed skeletal maturation Downslanted palpebral fissures Micrognathia Abnormal motor evoked potentials Abnormality of the sella turcica Old-aged sensorineural hearing impairment Full cheeks Abnormal involuntary eye movements Iridocyclitis Delayed menarche Saccadic smooth pursuit Speech apraxia Impaired proprioception Ulcerative colitis Corpus callosum atrophy Head tremor Hypoplasia of the pons Downturned corners of mouth Delayed myelination Oligomenorrhea Prominent superficial veins Abnormality of the nervous system Neonatal hypotonia Upslanted palpebral fissure Absent speech Dystonia Motor delay Feeding difficulties Increased vertebral height Kinetic tremor Recurrent hypoglycemia Maternal diabetes Blue sclerae Down-sloping shoulders Ketoacidosis High pitched voice Brisk reflexes Polyuria Hyperglycemia Hypoplasia of the brainstem Polydipsia Oligodontia Abnormal vertebral morphology Progeroid facial appearance Retinal atrophy Short nose Short phalanx of finger Fair hair Blue irides Cone-shaped epiphyses of the phalanges of the hand Rhinitis Spinal canal stenosis Congenital hypothyroidism Mild short stature Cone-shaped epiphysis Increased intracranial pressure Accelerated skeletal maturation Osteoarthritis Chronic rhinitis Eczema Underdeveloped nasal alae Hypoplasia of the maxilla Small hand Skeletal dysplasia Autism Clinodactyly of the 5th finger Hypospadias Obesity Midface retrusion Red hair Cognitive impairment Uveitis Lower limb spasticity Colitis Ankle clonus Gaze-evoked nystagmus Sensory axonal neuropathy Postural tremor Adducted thumb External ophthalmoplegia Pancreatitis Oculomotor apraxia Horizontal nystagmus Type II diabetes mellitus Dysphagia Memory impairment Postural instability Sensory neuropathy Distal amyotrophy Peripheral axonal neuropathy Unsteady gait Infertility Ophthalmoplegia Difficulty walking Myoclonus Abnormal aldolase level



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