Abnormal facial shape, and Delayed puberty

Diseases related with Abnormal facial shape and Delayed puberty

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Delayed puberty 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 X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY


X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

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

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Other less relevant matches:

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Low match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match WILSON-TURNER SYNDROME


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Low match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypogonadism Uncommon - Between 30% and 50% cases
Micrognathia 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 Delayed puberty. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypoglycemia Global developmental delay Hypogonadotrophic hypogonadism Cleft lip Micropenis Cleft palate Pes cavus Cryptorchidism Intellectual disability, mild Ataxia Gait ataxia Nystagmus Spasticity Absent speech Delayed speech and language development High palate Delayed skeletal maturation Deeply set eye Growth delay

Rare Symptoms - Less than 30% cases


Obesity Sensorineural hearing impairment Truncal obesity Peripheral neuropathy Elevated hepatic transaminase Scoliosis Hearing impairment Generalized hypotonia Broad nasal tip Myopia Inability to walk Tapered finger Poor speech Muscular hypotonia of the trunk Long face Microcephaly Muscular hypotonia Cataract Decreased testicular size Gynecomastia Cerebellar atrophy Talipes equinovarus Cardiomyopathy Ptosis Primary amenorrhea Long philtrum Severe short stature Hypothyroidism Lactic acidosis Growth hormone deficiency Increased circulating gonadotropin level Peripheral axonal neuropathy Pancreatitis Motor delay Acidosis Hypotelorism Osteoporosis Thin upper lip vermilion Polyneuropathy Amenorrhea Hypoplasia of penis High forehead Thick eyebrow Hypertension Hypermetropia Neurological speech impairment Brachycephaly Microtia Internuclear ophthalmoplegia Pes planus Retrognathia Specific learning disability Prominent supraorbital ridges Hepatomegaly Short foot Small hand Proteinuria Recurrent infections Inflammation of the large intestine Hepatocellular carcinoma Emotional lability Protuberant abdomen Hyperuricemia Xanthomatosis Xanthelasma Oral ulcer Focal segmental glomerulosclerosis Hyperlipidemia Kyphosis Recurrent bacterial infections Nephrolithiasis Decreased glomerular filtration rate Lipemia retinalis Doll-like facies Abnormal bleeding Neutropenia Enlarged kidney Gout Distal amyotrophy Decreased muscle mass Sloping forehead Autism Macrotia Difficulty walking EEG abnormality Aggressive behavior Attention deficit hyperactivity disorder Small for gestational age Severe global developmental delay Thick vermilion border Downturned corners of mouth Full cheeks Round face Tetraparesis Diabetes mellitus Open mouth Lower limb spasticity Progressive microcephaly Spastic tetraparesis Widely spaced teeth Drooling Agitation External genital hypoplasia Depressed nasal tip Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Hyperactivity Babinski sign Misalignment of teeth Abnormality of the foot Malar prominence Uplifted earlobe Short ear Feeding difficulties Optic atrophy Frontal bossing Abnormality of the skeletal system Short nose Upslanted palpebral fissure Mandibular prognathia Hypertrophic cardiomyopathy Pectus carinatum Congenital cataract Progressive peripheral neuropathy Hypospadias Increased serum lactate Esotropia Aciduria Hip dysplasia Absence seizures Optic nerve hypoplasia Abnormality of mitochondrial metabolism Strabismus Hyperreflexia Ventriculomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Hypertonia Limited extraocular movements Areflexia Titubation Azoospermia Abnormality of the skull Abnormality of the endocrine system Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Abnormality of the eye Abnormality of eye movement Facial asymmetry Oral cleft Ichthyosis Renal agenesis Holoprosencephaly Anosmia Underdeveloped supraorbital ridges Unilateral renal agenesis Bilateral cryptorchidism Anodontia Sparse pubic hair Hyposmia Abnormal renal morphology Microphallus Testicular atrophy Bimanual synkinesia Bilateral renal agenesis Eunuchoid habitus Alobar holoprosencephaly Abnormality of the elbow Prematurely aged appearance Olfactory lobe agenesis Adrenal insufficiency Underdeveloped nasal alae Hypergonadotropic hypogonadism Hypoplasia of the uterus Hypertelorism Epicanthus Wide nasal bridge Coarse facial features Intellectual disability, moderate Synophrys Aspiration Spina bifida Spina bifida occulta Hypopituitarism High pitched voice Myelomeningocele Panhypopituitarism Brachydactyly Delayed eruption of teeth Microdontia Blue sclerae Depressed nasal ridge Osteoarthritis Hypohidrosis Short toe Hypercholesterolemia Reduced number of teeth Decreased circulating luteinizing hormone level Hypothalamic gonadotropin-releasing hormone deficiency Decreased serum testosterone level Ophthalmoplegia Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Cognitive impairment Dysarthria Short neck Hyporeflexia Cerebellar hypoplasia Rod-cone dystrophy Abnormality of the nervous system Mental deterioration Infertility Increased intramyocellular lipid droplets Dysmetria Sensory neuropathy Sensorimotor neuropathy Hyperkinesis Bilateral ptosis Hammertoe Spastic diplegia Secondary amenorrhea Gonadal dysgenesis Severe sensorineural hearing impairment Retinal atrophy Amelogenesis imperfecta Exercise-induced muscle fatigue Reduced antithrombin III activity Decreased circulating follicle stimulating hormone level Muscle cramps Leydig cell insensitivity to gonadotropin Total anosmia Muscle weakness Fever Fatigue Elevated serum creatine phosphokinase Prominent forehead Dyspnea Abnormality of the liver Dilated cardiomyopathy Tachycardia Hepatic steatosis Bifid uvula Decreased serum insulin-like growth factor 1 Chest pain Hepatitis Cardiac arrest Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Tall chin



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